Takasawa, Kei

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