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Article

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

PloS one - 1 Jan 2015

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

Abstract excerpt

MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordered sex development,...

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Identifiers

PMID: 26580071
DOI: 10.1371/journal.pone.0142831
PMCID: PMC4646284

Genes

MAMLD1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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