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Article

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.

Hormone research in paediatrics - 1 Jan 2015

Avbelj Stefanija Magdalena, Kotnik Primož, Bratanič Nina, Žerjav Tanšek Mojca, Bertok Sara, Bratina Nataša, Battelino Tadej, Trebušak Podkrajšek Katarina

Abstract excerpt

BACKGROUND/AIMS: The HESX1 gene is essential in forebrain development and pituitary organogenesis, and its mutations are the most commonly identified genetic cause of septo-optic dysplasia (SOD). The PROP1 gene is involved in anterior pituitary cell lineage specification and is commonly implicated in non-syndromic combined pituitary hormone deficiency (CPHD). We aimed to assess the involvement of HESX1 and PROP1...

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Source

Identifiers

PMID: 26111865
DOI: 10.1159/000433468

Genes

PROP1
HESX1

Variants

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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Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.PMID 26111865Read ↗

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Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.Semantic proximity Read ↗

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