Association of 17q24.2 ‐q24.3 deletions with recognizable phenotype and short telomeres
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1438-1442, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: MiroslavaHancarova , MarcelaMalikova , MichaelaKotrova , JanaDrabova , MarieTrkova , ZdenekSedlacek Source Type: research

X ‐linked intellectual disability update 2017
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1375-1388, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: GiovanniNeri , Charles E.Schwartz , Herbert A.Lubs , Roger E.Stevenson Source Type: research

The phenotypic spectrum of Xia ‐Gibbs syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1315-1326, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: YunyunJiang , Michael F.Wangler , Amy L.McGuire , James R.Lupski , Jennifer E.Posey , Michael M.Khayat , David R.Murdock , LuisSanchez ‐Pulido , Chris P.Ponting , FanXia , Jill V.Hunter , QingchangMeng , MullaiMurugan Source Type: research

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1398-1404, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Heather M.Byers , MaidaChen , Andrew S.Gelfand , BruceOng , MarisaJendras , Ian A.Glass Source Type: research

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1449-1454, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: AstridBehnert , BerndAuber , DorisSteinemann , Michael C.Fr ühwald , CarolinHuisinga , KaisHussein , ChristianKratz , TimRipperger Source Type: research

Functional independence of Taiwanese children with Prader –Willi syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1309-1314, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Chung ‐LinLee , Hsiang‐YuLin , Li‐PingTsai , Huei‐ChingChiu , Ru‐YiTu , You‐HsinHuang , Yin‐HsiuChien , Ni‐ChungLee , Dau‐MingNiu , Mei‐ChynChao , Fuu‐JenTsai , Yen‐YinChou , Chih‐KuangChuang Source Type: research

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1455-1462, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: MelissaLorenzo , IreneStolte ‐Dijkstra , Patrickvan Rheenen , Ronald GarthSmith , TomScheers , Jagdeep S.Walia Source Type: research

The ontogeny of Robin sequence
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1349-1368, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Robrecht J. H.Logjes , Corstiaan C.Breugem , GijsVan Haaften , Emma C.Paes , Geoffrey H.Sperber , Marie ‐José H.van den Boogaard , Peter G.Farlie Source Type: research

Mutations in SZT2 result in early ‐onset epileptic encephalopathy and leukoencephalopathy
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1443-1448, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: AmyPizzino , MatthewWhitehead , ParisaSabet Rasekh , JenniferMurphy , GuyHelman , MiriamBloom , Sarah H.Evans , John G.Murnick , JoanConry , Ryan J.Taft , CasSimons , AdelineVanderver , Laura A.Adang Source Type: research

Delayed peak response of cortisol to insulin tolerance test in patients with Prader –Willi syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1369-1374, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: YujiOto , KeikoMatsubara , TadayukiAyabe , MasahisaShiraishi , NobuyukiMurakami , HiroshiIhara , TomoyoMatsubara , ToshiroNagai Source Type: research

Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1327-1334, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: AnkitaPrasad , OliviaGrocott , KimberlyParkin , AnnaLarson , Ronald L.Thibert Source Type: research

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1463-1536, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Cathy A.Stevens , IanKrantz Source Type: research

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with kiaa2022 pathogenic variants and review of the literature
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: MelissaLorenzo , IreneStolte ‐Dijkstra , Patrickvan Rheenen , Ronald GarthSmith , TomScheers , Jagdeep S.Walia Source Type: research

Cover Image, Volume 176A, Number 5, May 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 5, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: PaulKruszka , Antonio R.Porras , Deise Helenade Souza , Ang élicaMoresco , VictoriaHuckstadt , Ashleigh D.Gill , Alec P.Boyle , TommyHu , Yonit A.Addissie , Gary T. K.Mok , CedrikTekendo‐Ngongang , KarenFieggen , Elo Source Type: research

Table of Contents, Volume 176A, Number 5, May 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1039-1042, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1043-1043, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Source Type: research

CDC42 Mutations Linked to Multiple Heterogeneous Phenotypes: Proper CDC42 function needed for an array of developmental processes, and new data show that different classes of mutations can cause a heterogeneous set of developmental and multisystem phenotypes
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1045-1046, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Source Type: research

Whole ‐Exome Sequencing and Chromosomal Microarray Analysis Feasible and Cost‐Effective in an Underserved Population: Whole‐exome sequencing and chromosomal microarray analysis are more expensive up front but are far more effective in making a genetic diagnosis and much less costly
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1044-1045, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Source Type: research

In this issue
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1047-1047, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Source Type: research

The Society for Craniofacial Genetics and Developmental Biology 40th annual meeting
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1270-1273, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: LauraGammill , TimothyCox , SallyMoody , LisaTaneyhill , PaulTrainor , RalphMarcucio Source Type: research

A neurodegenerative mitochondrial disease phenotype due to biallelic loss ‐of‐function variants in PNPLA8 encoding calcium‐independent phospholipase A2γ
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1232-1237, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: AnjuShukla , Russell P.Saneto , MalavikaHebbar , GhaydaMirzaa , Katta M.Girisha Source Type: research

Homozygous DMRT2 variant associates with severe rib malformations in a newborn
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1216-1221, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: ArjanBouman , QuintenWaisfisz , JopAdmiraal , Moniekvan de Loo , Rick R.van Rijn , MichaDimitra , Roelof ‐JanOostra , Inge B.Mathijssen Source Type: research

Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1055-1090, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Amy M.Padula , WeiYang , KathleenSchultz , FredLurmann , S. KatharineHammond , Gary M.Shaw Source Type: research

Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution ‐based detailed clinical observation
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1137-1144, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: SoichiShibuya , YuichiroMiyake , ShigeruTakamizawa , ErikoNishi , KatsumiYoshizawa , TomokoHatata , KazukiYoshizawa , KenyaFujita , MasahikoNoguchi , JunOhata , TakehikoHiroma , TomohikoNakamura , TomokiKosho Source Type: research

Low ‐level expression of EPG5 leads to an attenuated Vici syndrome phenotype
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1207-1211, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Megan A.Waldrop , FeleciaGumienny , DanielBoue , Emilyde los Reyes , RichardShell , Robert B.Weiss , Kevin M.Flanigan Source Type: research

Williams –Beuren syndrome in diverse populations
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1128-1136, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: PaulKruszka , Antonio R.Porras , Deise Helenade Souza , Ang élicaMoresco , VictoriaHuckstadt , Ashleigh D.Gill , Alec P.Boyle , TommyHu , Yonit A.Addissie , Gary T. K.Mok , CedrikTekendo‐Ngongang , KarenFieggen , Elo Source Type: research

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1200-1206, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Siddaramappa JagdishPatil , AneekDas Bhowmik , VenkatramanBhat , VenugopalSatidevi Vineeth , RashmiVasudevamurthy , AshwinDalal Source Type: research

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type ‐2
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1190-1194, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: MonaEl ‐Ruby , AlaaEl‐Din Fayez , Sara H.El‐Dessouky , Mona S.Aglan , InasMazen , NoraIsmail , Hanan H.Afifi , Maha M.Eid , Mostafa I.Mostafa , Mennat I.Mehrez , YasminKhalil , Maha S.Zaki , Khaled R.Gaber , Mo Source Type: research

Bohring ‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1249-1252, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: EmmaBedoukian , DeborahCopenheaver , SherriBale , MatthewDeardorff Source Type: research

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1091-1098, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: CarolineAlby , LucileBoutaud , BettinaBessi ères , ValérieSerre , MarleneRio , ValerieCormier‐Daire , Judithde Oliveira , AmaleIchkou , LindaMouthon , Christopher T.Gordon , MaryseBonnière , CharlotteMechler , Pat Source Type: research

Expanding the molecular basis and phenotypic spectrum of ZDHHC9 ‐associated X‐linked intellectual disability
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1238-1244, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: SchaidaSchirwani , EmmaWakeling , KathSmith , , MeenaBalasubramanian Source Type: research

Philtrum length and intercommissural distance measurements at mixed dentition period
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1145-1149, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: MostafaMostafa , NehalHassib , InasSayed , AmanyNeamat , MagdaRamzy , TarekEl ‐Badry , HishamElGabry , HaidySalem , NadaOmar , AmiraIsmail , YousraIbrahim , AmrShebaita , AhmedAllam , MagdyMostafa Source Type: research

Lethal persistent pulmonary hypertension of the newborn in Bohring –Opitz syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1245-1248, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: MasayaKibe , SatoshiIbara , HidehitoInagaki , TakemaKato , HirokiKurahashi , ToshiroIkeda Source Type: research

Worries and needs of adults and parents of adults with neurofibromatosis type 1
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1150-1160, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Andre B.Rietman , Hannekevan Helden , Pauline H.Both , WalterTaal , Jeroen S.Legerstee , AnneLoesvan Staa , Henriette A.Moll , RianneOostenbrink , Agnies M.van Eeghen Source Type: research

Two novel cases expanding the phenotype of SETD2 ‐related overgrowth syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1212-1215, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Maartje C.van Rij , Iris H. I. M.Hollink , Paulien AnnaTerhal , Sarina G.Kant , ClaudiaRuivenkamp , Arievan Haeringen , J. AnnekeKievit , Martine J.van Belzen Source Type: research

Further delineation of achondroplasia –hypochondroplasia complex with long‐term survival
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1225-1231, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: AriadnaGonz ález‐del Angel , RocíoRius , Miguel A.Alcántara‐Ortigoza , ElaineSpector , Victoriadel Castillo , Luis EnriqueMata‐García Source Type: research

Comparison of perinatal factors in deletion versus uniparental disomy in Prader –Willi syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1161-1165, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: June ‐AnneGold , RanimMahmoud , Suzanne B.Cassidy , VirginiaKimonis Source Type: research

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1253-1257, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: AnnalisaAlessandrella , RobertoDella Casa , MariaAlessio , JorgePuente Prieto , PietroStrisciuglio , DanielaMelis Source Type: research

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1258-1269, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Michael J.Fisher , Allan J.Belzberg , Peterde Blank , ThomasDe Raedt , FlorentElefteriou , Rosalie E.Ferner , MarcoGiovannini , Gordon J.Harris , MichelKalamarides , Matthias A.Karajannis , AeRangKim , ConxiL ázaro , L Source Type: research

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1195-1199, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: YukoAkutsu , KentaroShirai , AkiraTakei , YudaiGoto , TomohiroAoyama , AkimituWatanabe , MasatoshiImamura , TakashiEnokizono , TatsuyukiOhto , TetsuoHori , KeikoSuzuki , MasaharuHayashi , KoujiMasumoto , KenInoue Source Type: research

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1049-1054, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: JoshWilloughby , CeliaDuff ‐Farrier , ArchanaDesurkar , ManjuKurian , AshokRaghavan , , MeenaBalasubramanian Source Type: research

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1184-1189, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: Robert C.Stowe , QinSun , Sarah H.Elsea , FernandoScaglia Source Type: research

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1166-1174, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: IvanIvanovski , SusanAkbaroghli , MarziaPollazzon , ChiaraGelmini , Stefano GiuseppeCaraffi , MahboubehMansouri , ZahraChavoshzadeh , SimonettaRosato , ValeriaPolizzi , GiancarloGargano , MarielleAlders , LiviaGaravelli Source Type: research

Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1222-1224, May 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: TomohiroSaito , TakayaNakane , MunenoriNarusawa , HideakiYagasaki , AtsushiNemoto , AtsushiNaito , KanjiSugita Source Type: research

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well ‐established knowledge to new frontiers
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: MartaUnolt , PaoloVersacci , SilviaAnaclerio , CaterinaLambiase , GiulioCalcagni , MatteoTrezzi , AdrianoCarotti , Terrence BlaineCrowley , Elaine H.Zackai , ElizabethGoldmuntz , James WilliamGaynor , Maria CristinaDigili Source Type: research

Three patients with DeSanto ‐Shinawi syndrome: Further phenotypic delineation
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: TomokoUehara , TakashiIshige , ShigetoHattori , HiroshiYoshihashi , MichinoriFunato , YuYamaguchi , ToshikiTakenouchi , KenjiroKosaki Source Type: research

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: LedaPaganini , ChiaraPesenti , DonatellaMilani , LauraFontana , SilviaMotta , Silvia MariaSirchia , GiuliettaScuvera , PaolaMarchisio , SusannaEsposito , Claudia MariaCinnante , Silvia MariaTabano , Monica RosaMiozzo Source Type: research

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: Eva ‐LenaStattin , JosefinJohansson , SannaGudmundsson , AdamAmeur , StaffanLundberg , Marie‐LouiseBondeson , MariaWilbe Source Type: research

Choroid plexus hyperplasia and chromosome 9p gains
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: MartinBoxill , NajaBecher , LoneSunde , ThomasThelle Source Type: research