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3 articles related to "Mamld1"

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Articles

Original Research

Published on 29 Aug 2019

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

in Systems Endocrinology

Christa E. Flück
Laura Audí
Mónica Fernández-Cancio
Kay-Sara Sauter
Idoia Martinez de LaPiscina
Luis Castaño
Isabel Esteva
Núria Camats

Frontiers in Genetics

doi 10.3389/fgene.2019.00746

7,561 views
36 citations

Case Report

Published on 28 Jun 2022

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

in Pediatric Endocrinology

Diego Yeste
Cristina Aguilar-Riera
Gennaro Canestrino
Paula Fernández-Alvarez
María Clemente
Núria Camats-Tarruella

Frontiers in Endocrinology

doi 10.3389/fendo.2022.884107

3,280 views
1 citation

Original Research

Published on 23 Dec 2020

Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance

in Pediatric Endocrinology

Lele Li
Fenqi Gao
Lijun Fan
Chang Su
Xuejun Liang
ChunXiu Gong

Frontiers in Endocrinology

doi 10.3389/fendo.2020.582516

5,581 views
17 citations