article_metadata: Helena Campos Fabbri Juliana Gabriel Ribeiro de Andrade Fernanda Caroline Soardi Flávia Leme de Calais Reginaldo José Petroli Andréa Trevas Maciel-Guerra Gil Guerra-Júnior Maricilda Palandi de Mello
article_metadata: 10.1186/1471-2350-15-7
article_metadata: BMC Med Genet
article_metadata: 2014 Jan 10;15:7.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24405868/
article_metadata: Disorder of Sex Development, 46,XY / genetics Mothers Mutation Primary Ovarian Insufficiency / genetics Siblings Steroidogenic Factor 1 / genetics Testosterone / metabolism
article_metadata: Disorder of Sex Development, 46,XY / genetics Mothers Mutation Primary Ovarian Insufficiency / genetics Siblings Steroidogenic Factor 1 / genetics Testosterone / metabolism Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Amino Acid Sequence Base Sequence Child Female Humans Infant Male Models, Molecular Molecular Sequence Data Protein Structure, Secondary Steroidogenic Factor 1 / chemistry Steroidogenic Factor 1 Testosterone
article_metadata: PMC3900668
article_metadata: 24405868
article_metadata: The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
article_metadata: 2014