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Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. Mu...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Dodé, Catherine, Teixeira, Luis, Levilliers, Jacqueline, Fouveaut, Corinne, Bouchard, Philippe, Kottler, Marie-Laure, Lespinasse, James, Lienhardt-Roussie, Anne, Mathieu, Michèle, Moerman, Alexandre, Morgan, Graeme, Murat, Arnaud, Toublanc, Jean-Edmont, Wolczynski, Slawomir, Delpech, Marc, Petit, Christine, Young, Jacques, Hardelin, Jean-Pierre
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2006
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1617130/
https://ncbi.nlm.nih.gov/pubmed/17054399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.0020175
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