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Article

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

American journal of medical genetics. Part A - 1 Aug 2014

Bauters Marijke, Frints Suzanna G, Van Esch Hilde, Spruijt Liesbeth, Baldewijns Marcella M, de Die-Smulders Christine E M, Fryns Jean-Pierre, Marynen Peter, Froyen Guy

Abstract excerpt

Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families with X-linked hypopituitarism. Using array-CGH we detected a 1.1 Mb microduplication at Xq27 in a large family with three males suffering from X-linked hypopituitarism. The duplication was mapped from 138.7 to 139.8 Mb, harboring only two annotated genes, SOX3 and ATP11C, and was shown to be a direct tandem copy...

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Share to Chromosome Duplication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Comparative Genomic Hybridization

Share to Genes, X-Linked

Share to Hypopituitarism

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Source

Identifiers

PMID: 24737742
DOI: 10.1002/ajmg.a.36580

Genes

SOX3

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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Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.PMID 24737742Read ↗

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