Ontology highlight
ABSTRACT:
SUBMITTER: Villanueva C
PROVIDER: S-EPMC4430466 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Villanueva Carine C Jacobson-Dickman Elka E Xu Cheng C Manouvrier Sylvie S Dwyer Andrew A AA Sykiotis Gerasimos P GP Beenken Andrew A Liu Yang Y Tommiska Johanna J Hu Youli Y Tiosano Dov D Gerard Marion M Leger Juliane J Drouin-Garraud Valérie V Lefebvre Hervé H Polak Michel M Carel Jean-Claude JC Phan-Hug Franziska F Hauschild Michael M Plummer Lacey L Rey Jean-Pierre JP Raivio Taneli T Raivio Taneli T Bouloux Pierre P Sidis Yisrael Y Mohammadi Moosa M Mohammadi Moosa M de Roux Nicolas N Pitteloud Nelly N
Genetics in medicine : official journal of the American College of Medical Genetics 20141113 8
<h4>Purpose</h4>Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.<h4>Methods</h4>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 sequence- and structure-based predictions and/or functional assays.<h4>R ...[more]