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Article

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.

American journal of human genetics - 1 May 2005

Woods Kathryn S, Cundall Maria, Turton James, Rizotti Karine, Mehta Ameeta, Palmer Rodger, Wong Jacqueline, Chong W K, Al-Zyoud Mahmoud, El-Ali Maryam, Otonkoski Timo, Martinez-Barbera Juan-Pedro, Thomas Paul Q, Robinson Iain C, Lovell-Badge Robin, Woodward Karen J, Dattani Mehul T

Abstract excerpt

Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract (by 11 alanines) within the transcription factor SOX3 (Xq27.1) has been reported in patients with growth hormone deficiency and variable learning difficulties. We report a submicroscopic duplication of Xq27.1, the smallest reported to...

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Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High Mobility Group Proteins

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Source

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Identifiers

PMID: 15800844
DOI: 10.1086/430134
PMCID: PMC1199372

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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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.PMID 15800844Read ↗

Increased Transactivation Associated with<i>SOX</i>3 Polyalanine Tract Deletion in a Patient with HypopituitarismSemantic proximity Read ↗

Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Semantic proximity Read ↗

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.Semantic proximity Read ↗

SOX3 Deletion in Mouse and Human Is Associated With Persistence of the Craniopharyngeal CanalSemantic proximity Read ↗

Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature ReviewSemantic proximity Read ↗

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

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.Semantic proximity Read ↗

Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.Semantic proximity Read ↗

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.Semantic proximity Read ↗

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing <i>SOX3</i>Semantic proximity Read ↗

Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.Semantic proximity Read ↗

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