Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Aarskog–Scott syndrome (AAS) is a developmental disorder, caused by disease‐causing hemizygous variants in the FGD1 gene. AAS is characterized by dysmorphic features, genital malformation, skeletal anomalies, and in some cases, intellectual disability and behavioral difficulties. Myopathy has only b...

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Detalles Bibliográficos
Autores principales: Bayat, Allan, Krett, Bjørg, Dunø, Morten, Torring, Pernille Mathiesen, Vissing, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Genetic Syndromes in Adults
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321604/
https://www.ncbi.nlm.nih.gov/pubmed/35388608
http://dx.doi.org/10.1002/ajmg.a.62753

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321604/
https://www.ncbi.nlm.nih.gov/pubmed/35388608
http://dx.doi.org/10.1002/ajmg.a.62753

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