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A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report
Yeste Fernandez, Diego; aguilar-riera, cristina; Canestrino, Gennaro; Fernández Álvarez, Paula; Clemente Leon, Maria; Camats Tarruella, Núria (Frontiers Media, 2022-06-28) -
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
Martinez de LaPiscina Martin, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats Tarruella, Núria (Public Library of Science, 2023-07-11)