A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

MAMLD1 (X chromosome) is one of the recognized genes related to different sex development. It is expressed in testis and ovaries and seems to be involved in fetal sex development and in adult reproductive function, including testosterone biosynthesis. However, its exact role remains unclear. Over 40...

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Detalles Bibliográficos
Autores principales: Yeste, Diego, Aguilar-Riera, Cristina, Canestrino, Gennaro, Fernández-Alvarez, Paula, Clemente, María, Camats-Tarruella, Núria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274080/
https://www.ncbi.nlm.nih.gov/pubmed/35837313
http://dx.doi.org/10.3389/fendo.2022.884107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274080/
https://www.ncbi.nlm.nih.gov/pubmed/35837313
http://dx.doi.org/10.3389/fendo.2022.884107

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