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Article

Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene.

Clinical endocrinology - 1 May 2000

Frisch H, Kim C, Häusler G, Pfäffle R

Abstract excerpt

Several mutations of the pituitary-specific transcription factor Pit-1 have been identified. We describe a girl with a mutation of the Pit-1 gene leading to a complete lack of GH, TSH and prolactin and a marked hypoplasia of the anterior pituitary gland. The patient had a homozygous nonsense-mutation at position 172 (CGA to TGA), converting arginine into a stop codon, leading to an early termination of protein...

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Source

Identifiers

PMID: 10792348
DOI: 10.1046/j.1365-2265.2000.00942.x

Genes

CGA

Provenance

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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