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Article

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.

Fertility and sterility - 1 May 2015

Bastian Claire, Muller Jean-Baptiste, Lortat-Jacob Stephen, Nihoul-Fékété Claire, Bignon-Topalovic Joelle, McElreavey Ken, Bashamboo Anu, Brauner Raja

Abstract excerpt

OBJECTIVE: To assess genetic mutations and associated somatic anomalies in a series of patients with 46,XY gonadal dysgenesis (GD). DESIGN: Single center retrospective study. SETTING: University pediatric hospital. PATIENT(S): Fourteen patients with 46,XY GD. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype-phenotype relationship. RESULT(S): The presenting symptom was disorders of sex development (6...

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Source

Identifiers

PMID: 25813279
DOI: 10.1016/j.fertnstert.2015.01.043

Genes

SRY
ZFPM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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