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Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder. This paper described a Chinese family study of Aarskog-Scott syndrome in which the main patients w...
| 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/PMC9424661/ https://www.ncbi.nlm.nih.gov/pubmed/36051692 http://dx.doi.org/10.3389/fgene.2022.932073 |