A novel missense mutation of
NR5A1
c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia
Asian J Androl
.
2022 Jul-Aug;24(4):438-440.
doi: 10.4103/aja202185.
Authors
Dan Zhang
1
,
Ying Xin
1
,
Ming-Yu Li
2
,
Ling-Zhe Meng
1
,
Ya-Jie Tong
1
Affiliations
1
Department of Pediatric Endocrine and Metabolism, Shengjing Hospital of China Medical University, Shenyang 110004, China.
2
Department of Clinical Laboratory, Shengjing Hospital of China Medical University, Shenyang 110004, China.
PMID:
34975071
PMCID:
PMC9295473
DOI:
10.4103/aja202185
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Asian People / genetics
China
Disorders of Sex Development* / genetics
Humans
Infant
Mutation
Mutation, Missense*
Steroidogenic Factor 1 / genetics
Substances
NR5A1 protein, human
Steroidogenic Factor 1