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

PURPOSE: Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising CHH and SHFM. METHODS: We identified patients with CHH and SHFM through international collaboration. Probands and available fam...

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Detalles Bibliográficos
Autores principales: Villanueva, Carine, Jacobson-Dickman, Elka, Xu, Cheng, Manouvrier, Sylvie, Dwyer, Andrew A., Sykiotis, Gerasimos P., Beenken, Andrew, Liu, Yang, Tommiska, Johanna, Hu, Youli, Tiosano, Dov, Gerard, Marion, Leger, Juliane, Drouin-Garraud, Valérie, Lefebvre, Hervé, Polak, Michel, Carel, Jean-Claude, Phan-Hug, Franziska, Hauschild, Michael, Plummer, Lacey, Rey, Jean-Pierre, Raivio, Taneli, Bouloux, Pierre, Sidis, Yisrael, Mohammadi, Moosa, de Roux, Nicolas, Pitteloud, Nelly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430466/
https://www.ncbi.nlm.nih.gov/pubmed/25394172
http://dx.doi.org/10.1038/gim.2014.166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430466/
https://www.ncbi.nlm.nih.gov/pubmed/25394172
http://dx.doi.org/10.1038/gim.2014.166

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