Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew A. Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gerard, Juliane Leger, Valerie Drouin-Garraud, Herve Lefebvre, Michel Polak, Jean-Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey PlummerJean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolas de Roux, Nelly Pitteloud

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalGenetics In medicine
Volume17
Issue number8
Pages (from-to)651-659
Number of pages9
ISSN1098-3600
DOIs
Publication statusPublished - Aug 2015
MoE publication typeA1 Journal article-refereed

Fields of Science

  • congenital hypogonadotropic hypogonadism
  • fibroblast growth factor receptor 1
  • FGF receptor substrate 2 alpha
  • split hand/foot malformation
  • GONADOTROPIN-RELEASING-HORMONE
  • DOMINANT KALLMANN-SYNDROME
  • GROWTH-FACTOR RECEPTORS
  • OF-FUNCTION MUTATIONS
  • FOOT MALFORMATION
  • LIMB DEVELOPMENT
  • MECHANISMS
  • DOMAIN
  • INDIVIDUALS
  • ASSOCIATION
  • 3111 Biomedicine

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