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Article

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.

Endocrine - 1 Dec 2006

Vieira Teresa C, da Silva Magnus R Dias, Abucham Julio

Abstract excerpt

BACKGROUND: Combined pituitary hormone deficiency (CPHD) corresponds to impaired production of growth hormone (GH) and other anterior pituitary hormones. The genetic form of CPHD may result from mutations in pituitary transcription factor genes, and PROP1 is the most commonly mutated gene in these cases. Patients with PROP1 mutations may have variable CPHD phenotypes but, because they are usually treated in...

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Identifiers

PMID: 17526949
DOI: 10.1007/s12020-006-0015-2

Genes

PROP1

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The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.PMID 17526949Read ↗

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).Semantic proximity Read ↗

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