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Article

Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene.

Molecular genetics and metabolism - 1 May 1999

Nogueira C R, Sabacan L, Jameson J L, Medeiros-Neto G, Kopp P

Abstract excerpt

Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in...

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Identifiers

PMID: 10329025
DOI: 10.1006/mgme.1999.2841

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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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Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene.PMID 10329025Read ↗

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