Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype-Reference-Cited by-同舟云学术

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

Published:2015-11-16 Issue:11 Volume:10 Page:e0142831
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Camats Núria,Fernández-Cancio Mónica,Audí Laura,Mullis Primus E.,Moreno Francisca,González Casado Isabel,López-Siguero Juan Pedro,Corripio Raquel,Bermúdez de la Vega José Antonio,Blanco José Antonio,Flück Christa E.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference35 articles.

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3. CXorf6 is a causative gene for hypospadias;M Fukami;Nature genetics,2006

4. Mutations of CXorf6 are associated with a range of severities of hypospadias;N Kalfa;European journal of endocrinology / European Federation of Endocrine Societies,2008

5. Polymorphisms of MAMLD1 gene in hypospadias;N Kalfa;Journal of pediatric urology,2011

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2. A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone;Hormones;2023-11-24

3. A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report;Frontiers in Endocrinology;2022-06-28

4. Monogenic forms of DSD: An update;Hormone Research in Paediatrics;2021-12-28

5. MAMLD1 and Differences/Disorders of Sex Development: An Update;Sexual Development;2021-10-25