Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Left ventricular dysfunction in a patient with Angelman syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Parieto-occipital alopecia in early infancy mandates cranial imaging
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Contiguous gene deletion of TBX5 and TBX3: report of another case
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Sensorineural hearing loss in a patient with Swyer syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Hyperechoic renal medullary pyramids in a boy with Simpson–Golabi–Behmel syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Left ventricular dysfunction in a patient with Angelman syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Parieto-occipital alopecia in early infancy mandates cranial imaging
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
