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Article

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

European journal of human genetics : EJHG - 1 Jan 2007

Gimelli Giorgio, Gimelli Stefania, Dimasi Nazzareno, Bocciardi Renata, Di Battista Eliana, Pramparo Tiziano, Zuffardi Orsetta

Abstract excerpt

SRY gene is responsible for initiating male sexual differentiation. The protein encoded by SRY contains a homeobox (HMG) domain, which is a DNA-binding domain. Mutations of the SRY gene are reported to be associated with XY pure gonadal dysgenesis. The majority of these are de novo mutations affecting only one individual in a family. Only a small subset of mutations is shared between the father and one or more of...

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Source

Identifiers

PMID: 17063144
DOI: 10.1038/sj.ejhg.5201719

Genes

SRY

Provenance

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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Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.PMID 17063144Read ↗

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