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

Yiping ChengJing ChenXinli ZhouJiangfei YangYiming JiChao Xu

Published in: Orphanet journal of rare diseases (2021)

Our findings suggested the novel compound variants of NR5A1 and MAP3K1 can alter the expression of SOX9 and ultimately lead to abnormality of sex development.

Keyphrases

copy number
poor prognosis
stem cells
high density
gene expression
dna methylation