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...

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Detalles Bibliográficos
Autores principales: Zhu, Yilin, Chen, Qingqing, Lin, Haiyan, Lu, Huifei, Qu, Yangbin, Yan, Qingfeng, Wang, Chunlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
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

Internet

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

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