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Article

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

The Journal of clinical endocrinology and metabolism - 1 Feb 2007

McNay David E G, Turton James P, Kelberman Daniel, Woods Kathryn S, Brauner Raja, Papadimitriou Anastasios, Keller Eberhard, Keller Alexandra, Haufs Nele, Krude Heiko, Shalet Stephen M, Dattani Mehul T

Abstract excerpt

CONTEXT: Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis. OBJECTIVE: Given that previous screening was carried out by SSCP detection alone and limited to coding regions, we performed an in-depth genetic analysis of HESX1 to establish the true contribution of HESX1 genetic...

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Source

Identifiers

PMID: 17148560
DOI: 10.1210/jc.2006-1609

Genes

HESX1

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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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.PMID 17148560Read ↗

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Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.Semantic proximity Read ↗

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