MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female

Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPBRANDAO, Maira PontualCOSTA, Elaine Maria FradeFUKAMI, MakiGERDULO, MarizaPEREIRA, Natalia P.DOMENICE, SorahiaOGATA, TsutomuMENDONCA, Berenice B.2017-11-272017-11-272011HORMONAL AND GENETIC BASIS OF SEXUAL DIFFERENTIATION DISORDERS AND HOT TOPICS IN ENDOCRINOLOGY, v.707, p.129-131, 2011978-1-4419-8001-40065-2598https://observatorio.fm.usp.br/handle/OPI/22581engrestrictedAccesspremature ovarian failurecxorf6hypospadiasMAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized FemalearticleCopyright SPRINGER-VERLAG BERLIN10.1007/978-1-4419-8002-1_28Endocrinology & MetabolismGenetics & Heredity