A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

doi:10.1210/jc.2009-0843

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Article

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

The Journal of clinical endocrinology and metabolism - 1 Feb 2010

Sarfati Julie, Guiochon-Mantel Anne, Rondard Philippe, Arnulf Isabelle, Garcia-Piñero Alfons, Wolczynski Slawomir, Brailly-Tabard Sylvie, Bidet Maud, Ramos-Arroyo Maria, Mathieu Michèle, Lienhardt-Roussie Anne, Morgan Graeme, Turki Zinet, Bremont Catherine, Lespinasse James, Du Boullay Hélène, Chabbert-Buffet Nathalie, Jacquemont Sébastien, Reach Gérard, De Talence Nicole, Tonella Paolo, Conrad Bernard, Despert Francois, Delobel Bruno, Brue Thierry, Bouvattier Claire, Cabrol Sylvie, Pugeat Michel, Murat Arnaud, Bouchard Philippe, Hardelin Jean-Pierre, Dodé Catherine, Young Jacques

Abstract excerpt

CONTEXT: Both biallelic and monoallelic mutations in PROK2 or PROKR2 have been found in Kallmann syndrome (KS). OBJECTIVE: The objective of the study was to compare the phenotypes of KS patients harboring monoallelic and biallelic mutations in these genes. DESIGN AND PATIENTS: We studied clinical...

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Identifiers

PMID: 20022991
DOI: 10.1210/jc.2009-0843

Genes

PROKR2
PROK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-20022991-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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