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

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

Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2010, 95 (2), pp.659-69. ⟨10.1210/jc.2009-0843⟩
Journal of Clinical Endocrinology and Metabolism, 2010, 95 (2), pp.659-69. ⟨10.1210/jc.2009-0843⟩

International audience; 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 biall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4870f9553c8bb28f082e878bd54986fd
https://pubmed.ncbi.nlm.nih.gov/20022991