PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photopho...
Source: European Journal of Medical Genetics - September 1, 2023 Category: Genetics & Stem Cells Authors: Alice P Vasconcelos Ana Nogueira Pedro Matos Joel Pinto Maria Jo ão Pinho Susana Fernandes Sofia Doria Carla Pinto Moura Source Type: research
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photopho...
Source: European Journal of Medical Genetics - September 1, 2023 Category: Genetics & Stem Cells Authors: Alice P Vasconcelos Ana Nogueira Pedro Matos Joel Pinto Maria Jo ão Pinho Susana Fernandes Sofia Doria Carla Pinto Moura Source Type: research
Eyelid involvement of primary cutaneous lymphomas: A clinical perspective
Australas J Dermatol. 2023 Jul 12. doi: 10.1111/ajd.14131. Online ahead of print.ABSTRACTEyelids may be affected in systemic, ocular adnexal and primary cutaneous lymphomas (PCLs). The frequency of eyelid involvement in PCLs is still not well known and it is not a predilection site for any type. While primary cutaneous T-cell lymphomas (CTCLs) are more commonly seen than primary cutaneous B-cell lymphomas (CBCLs), especially mycosis fungoides (MF) as by far the most frequent type, B cell lymphomas are reported to be the commonest type in eyelid localization on the contrary. PCLs may be located on the eyelids, as the sole m...
Source: The Australasian Journal of Dermatology - July 12, 2023 Category: Dermatology Authors: Can Baykal Tugba Atci Source Type: research
Eyelid involvement of primary cutaneous lymphomas: A clinical perspective
Australas J Dermatol. 2023 Jul 12. doi: 10.1111/ajd.14131. Online ahead of print.ABSTRACTEyelids may be affected in systemic, ocular adnexal and primary cutaneous lymphomas (PCLs). The frequency of eyelid involvement in PCLs is still not well known and it is not a predilection site for any type. While primary cutaneous T-cell lymphomas (CTCLs) are more commonly seen than primary cutaneous B-cell lymphomas (CBCLs), especially mycosis fungoides (MF) as by far the most frequent type, B cell lymphomas are reported to be the commonest type in eyelid localization on the contrary. PCLs may be located on the eyelids, as the sole m...
Source: The Australasian Journal of Dermatology - July 12, 2023 Category: Dermatology Authors: Can Baykal Tugba Atci Source Type: research
Eyelid involvement of primary cutaneous lymphomas: A clinical perspective
Australas J Dermatol. 2023 Jul 12. doi: 10.1111/ajd.14131. Online ahead of print.ABSTRACTEyelids may be affected in systemic, ocular adnexal and primary cutaneous lymphomas (PCLs). The frequency of eyelid involvement in PCLs is still not well known and it is not a predilection site for any type. While primary cutaneous T-cell lymphomas (CTCLs) are more commonly seen than primary cutaneous B-cell lymphomas (CBCLs), especially mycosis fungoides (MF) as by far the most frequent type, B cell lymphomas are reported to be the commonest type in eyelid localization on the contrary. PCLs may be located on the eyelids, as the sole m...
Source: The Australasian Journal of Dermatology - July 12, 2023 Category: Dermatology Authors: Can Baykal Tugba Atci Source Type: research
Eyelid involvement of primary cutaneous lymphomas: A clinical perspective
Australas J Dermatol. 2023 Jul 12. doi: 10.1111/ajd.14131. Online ahead of print.ABSTRACTEyelids may be affected in systemic, ocular adnexal and primary cutaneous lymphomas (PCLs). The frequency of eyelid involvement in PCLs is still not well known and it is not a predilection site for any type. While primary cutaneous T-cell lymphomas (CTCLs) are more commonly seen than primary cutaneous B-cell lymphomas (CBCLs), especially mycosis fungoides (MF) as by far the most frequent type, B cell lymphomas are reported to be the commonest type in eyelid localization on the contrary. PCLs may be located on the eyelids, as the sole m...
Source: The Australasian Journal of Dermatology - July 12, 2023 Category: Dermatology Authors: Can Baykal Tugba Atci Source Type: research
