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FGD1 Variant Associated With Aarskog–Scott Syndrome
BACKGROUND: Aarskog–Scott syndrome, a rare X-linked genetic disorder, is identified by combined clinical manifestations of short stature, facial, skeletal, and genital anomalies. Annually, two or three new cases are diagnosed with Aarskog–Scott syndrome, which is associated with FGD1 variants. Howev...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329920/ https://www.ncbi.nlm.nih.gov/pubmed/35911831 http://dx.doi.org/10.3389/fped.2022.888923 |