Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

Abstract Background Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the clinical heterogeneity of 46, XY DSD. Materials and methods We conducted...

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Bibliographic Details
Main Authors: Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji, Chao Xu
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
46
XY differences in sex development
NR5A1
MAP3K1
Diagnosis
Heterogeneity
Online Access:https://doi.org/10.1186/s13023-021-01908-z

Internet

https://doi.org/10.1186/s13023-021-01908-z

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