title: MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.
authors.affiliation: Department of Endocrinology and Metabolism, São Paulo University, Brazil. mairapb@gmail.com
authors.forename: Maíra Pontual
authors.initials: MP
authors.lastname: Brandão
authors.forename: Elaine Maria Frade
authors.initials: EM
authors.lastname: Costa
authors.forename: Maki
authors.initials: M
authors.lastname: Fukami
authors.forename: Mariza
authors.initials: M
authors.lastname: Gerdulo
authors.forename: Natalia P
authors.initials: NP
authors.lastname: Pereira
authors.forename: Sorahia
authors.initials: S
authors.lastname: Domenice
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.forename: Berenice B
authors.initials: BB
authors.lastname: Mendonca
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014770:Virilism
chemical_list: D004268:DNA-Binding Proteins; C528016:MAMLD1 protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors