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Article

MAMLD1 and 46,XY disorders of sex development.

Seminars in reproductive medicine - 1 Oct 2012

Ogata Tsutomu, Sano Shinichirou, Nagata Eiko, Kato Fumiko, Fukami Maki

Abstract excerpt

MAMLD1 (mastermind-like domain containing 1) is a recently discovered causative gene for 46,XY disorders of sex development (DSD), with hypospadias as the salient clinical phenotype. To date, microdeletions involving MAMLD1 have been identified in six patients, and definitive mutations (nonsense and frameshift mutations that are predicted to undergo nonsense mediated mRNA decay [NMD]) have been found in six...

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Source

Identifiers

PMID: 23044878
DOI: 10.1055/s-0032-1324725

Genes

MAMLD1

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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MAMLD1 and 46,XY disorders of sex development.PMID 23044878Read ↗

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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic DiseaseSemantic proximity Read ↗

Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.Semantic proximity Read ↗

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