Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review. [electronic resource]
- Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2017
- 284-288 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1661-5433
10.1159/000485868 doi
Disorder of Sex Development, 46,XY--genetics Female Heterozygote Humans Male Mutation, Missense--genetics Pedigree Phenotype Siblings Steroidogenic Factor 1--genetics