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Article

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

The Journal of clinical endocrinology and metabolism - 1 Jul 2015

Werner Ralf, Merz Hartmut, Birnbaum Wiebke, Marshall Louise, Schröder Tatjana, Reiz Benedikt, Kavran Jennifer M, Bäumer Tobias, Capetian Philipp, Hiort Olaf

Abstract excerpt

BACKGROUND: 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. OBJECTIVE...

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Identifiers

PMID: 25927242
DOI: 10.1210/jc.2015-1314
PMCID: PMC4490300

Genes

DHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25927242-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.PMID 25927242Read ↗

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development.Semantic proximity Read ↗

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Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.Semantic proximity Read ↗

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