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Article

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.

Gene - 10 Sept 2013

Helszer Zofia, Dmochowska Anita, Szemraj Janusz, Słowikowska-Hilczer Jolanta, Wieczorek Marek, Jędrzejczyk Sławomir, Kałużewski Bogdan

Abstract excerpt

SRY (sex-determining region Y) gene, MIM 480000, NM_005634) is crucial for sex differentiation which encodes the protein responsible for initiating testis differentiation. SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms. We studied a 46,XY female patient with primary amenorrhoea and negative family history. The clinical, endocrine, histopathologic and cytogenetic data are...

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Identifiers

PMID: 23624391
DOI: 10.1016/j.gene.2013.04.027

Genes

SRY

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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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A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.PMID 23624391Read ↗

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