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...

Full description

Saved in:
Bibliographic Details
Published in:Transl Pediatr
Main Authors: Jia, Hongshuai, Ma, Tiantian, Liu, Ziqin, Ouyang, Yuru, Hao, Chunsheng
Format: Artigo
Language:Inglês
Published: AME Publishing Company 2021
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8192999/
https://ncbi.nlm.nih.gov/pubmed/34189097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp-21-26
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items