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Article

PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family.

Hormone research - 1 Jan 2003

Lazar L, Gat-Yablonski G, Kornreich L, Pertzelan A, Phillip M

Abstract excerpt

BACKGROUND: PROP-1 gene mutations have been described in patients with combined pituitary hormone deficiencies (CPHD). METHODS: Clinical follow-up and molecular analysis of the PROP-1 gene were performed in 4 affected sisters of one consanguineous family, in whom 8 members had CPHD. RESULTS: The 4 sisters were homozygous for the same R120C mutation. Growth hormone and thyroid-stimulating hormone deficiencies were...

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PMID: 14614227
DOI: 10.1159/000074036

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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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