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Article

Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).

The Journal of clinical endocrinology and metabolism - 1 Sept 2012

Godi Michela, Mellone Simona, Tiradani Luigi, Marabese Rita, Bardelli Claudio, Salerno Mariacarolina, Prodam Flavia, Bellone Simonetta, Petri Antonella, Momigliano-Richiardi Patricia, Bona Gianni, Giordano Mara

Abstract excerpt

CONTEXT: Mutations within the PROP1 gene represent one of the main causes of familial combined pituitary hormone deficiency (CPHD). However, most of the cases are sporadic with an unknown genetic cause. OBJECTIVE: The aim of this study was the search for low penetrance variations within and around a conserved regulatory element in the intron 1 of PROP1, contributing to a multifactorial form of the disease in...

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Identifiers

PMID: 22745233
DOI: 10.1210/jc.2012-1527

Genes

PROP1

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Related research

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Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).PMID 22745233Read ↗

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The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.Semantic proximity Read ↗

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Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Semantic proximity Read ↗

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