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

doi:10.1038/gim.2014.166

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2015

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

Abstract excerpt

PURPOSE: Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two. METHODS: We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by...

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PMID: 25394172
DOI: 10.1038/gim.2014.166
PMCID: PMC4430466

Genes

FGFR1

Variants

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