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Article

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

PloS one - 1 Jan 2012

Kalfa Nicolas, Fukami Maki, Philibert Pascal, Audran Francoise, Pienkowski Catherine, Weill Jacques, Pinto Graziella, Manouvrier Sylvie, Polak Michel, Ogata Totsumo, Sultan Charles

Abstract excerpt

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22479329
DOI: 10.1371/journal.pone.0032505
PMCID: PMC3316539

Genes

MAMLD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.PMID 22479329Read ↗

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

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