Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
Frontiers In Genetics
Flück, Christa E CE; Audí, Laura L; Fernández-Cancio, Mónica M; Sauter, Kay-Sara KS; Martinez de LaPiscina, Idoia I; Castaño, Luis L; Esteva, Isabel I; Camats, Núria N
Publication Date: 2019
Variant appearance in text: NOTCH1: 3597C>T; Leu1199=; rs150666307