A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report

Aarskog-Scott syndrome (AAS) is most commonly inherited as an X-linked recessive genetic disease caused by FGD1 mutations. AAS patients are most frequently male, and the clinical manifestations of facial abnormalities, skeletal deformities, and abnormal genitalia comprise a characteristic triad of d...

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Detalles Bibliográficos
Autores principales: Jia, Hongshuai, Ma, Tiantian, Liu, Ziqin, Ouyang, Yuru, Hao, Chunsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192999/
https://www.ncbi.nlm.nih.gov/pubmed/34189097
http://dx.doi.org/10.21037/tp-21-26

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192999/
https://www.ncbi.nlm.nih.gov/pubmed/34189097
http://dx.doi.org/10.21037/tp-21-26

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