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Article

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2015

Igarashi Maki, Wada Yuka, Kojima Yoshiyuki, Miyado Mami, Nakamura Michiko, Muroya Koji, Mizuno Kentaro, Hayashi Yutaro, Nonomura Katsuya, Kohri Kenjiro, Ogata Tsutomu, Fukami Maki

Abstract excerpt

MAMLD1 is a causative gene for disorders of sex development. Several MAMLD1 mutations have been shown to cause hypospadias by generating dysfunctional proteins and/or unstable mRNAs. Here, we identified an intronic mutation of MAMLD1 (g.IVS4-2A>G) in 1 of 180 hypospadias patients. RT-PCR of the p...

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Source

Identifiers

PMID: 25833151
DOI: 10.1159/000380842

Genes

MAMLD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25833151-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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