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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| 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 |