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Article

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2005

Gat-Yablonski G, Klar A, Hirsch D, Eliakim A, Lazar L, Hurvitz H, Phillip M

Abstract excerpt

BACKGROUND: POU1F1, a pituitary-specific transcription factor of the class 1 POU family, is crucial for the development and differentiation of the anterior pituitary gland. Mutations in the POU1F1 gene have been shown to be responsible for a syndrome of combined pituitary hormone deficiency (CPHD), including prolactin, growth hormone and thyroid-stimulating hormone deficiencies. METHODS: Five patients with CPHD...

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Identifiers

PMID: 15844473
DOI: 10.1515/jpem.2005.18.4.385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.PMID 15844473Read ↗

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