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Article

A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.

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

Ruiz-Arana Inge-Lore, Hübner Angela, Cetingdag Cigdem, Krude Heiko, Grüters Annette, Fukami Maki, Biebermann Heike, Köhler Birgit

Abstract excerpt

MAMLD1 is suggested to play a role in the development of 46,XY disorders of sexual development (46,XY DSD). So far, mutations in this gene have been detected in several cases of hypospadias with normal testosterone levels at birth. From in vitro studies it was concluded that Mamld1 might transien...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25660412
DOI: 10.1159/000371603

Genes

MAMLD1
HES3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25660412-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.PMID 25660412Read ↗

MAMLD1 and Differences/Disorders of Sex Development: An Update.Semantic proximity Read ↗

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

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

MAMLD1 and 46,XY disorders of sex development.Semantic proximity Read ↗

[Advance in research on the role of MAMLD1 gene in disorders of sex development].Semantic proximity Read ↗

A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.Semantic proximity Read ↗

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Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.Semantic 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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