Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Carine VillanuevaElka Jacobson-DickmanCheng XuSylvie ManouvrierAndrew A DwyerGerasimos P SykiotisAndrew BeenkenYang LiuJohanna TommiskaYouli HuDov TiosanoMarion GerardJuliane LegerValérie Drouin-GarraudHervé LefebvreMichel PolakJean-Claude CarelFranziska Phan-HugMichael HauschildLacey PlummerJean-Pierre ReyTaneli RaivioPierre BoulouxYisrael SidisJohanna TommiskaNicolas de RouxNelly PitteloudPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)
FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10% in the general CHH population to 88% in these patients.