Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

doi:10.1038/ejhg.2015.126

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Article

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

European journal of human genetics : EJHG - 1 Mar 2016

Dusatkova Petra, Pfäffle Roland, Brown Milton R, Akulevich Natallia, Arnhold Ivo J P, Kalina Maria A, Kot Karolina, Krzisnik Ciril, Lemos Manuel C, Malikova Jana, Navardauskaite Ruta, Obermannova Barbora, Pribilincova Zuzana, Sallai Agnes, Stipancic Gordana, Verkauskiene Rasa, Cinek Ondrej, Blum Werner F, Parks John S, Austerlitz Frederic, Lebl Jan

Abstract excerpt

Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or...

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Identifiers

PMID: 26059845
DOI: 10.1038/ejhg.2015.126
PMCID: PMC4755373

Genes

PROP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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