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hrp0086p1-p728 | Pituitary and Neuroendocrinology P1 | ESPE2016

FGFR1 Loss-of-Function Mutations of in Three Japanese Patients with Isolated Hypogonadotropic Hypogonadism and Split Hand/Foot Malformation

Ohtaka Kohnosuke , Yamaguchi Rie , Yagasaki Hideaki , Miyoshi Tatsuya , Hasegawa Hiroyuki , Hasegawa Tomonobu , Miyoshi Hideaki , Fukami Maki , Ogata Tsutomu

Background: Heterozygous loss-of-function mutations of FGFR1 are known to cause Kallmann syndrome (KS) and isolated hypogonadotropic hypogonadism (IHH). Furthermore, recent studies have also indicated that heterozygous loss-of-function mutations lead to IHH and split hand/foot malformation (SHFM).Objective and hypotheses: The objective of this study was to examine FGFR1 in three Japanese patients with IHH and SHFM.Method: ...

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FGFR1 Loss-of-Function Mutations of in Three Japanese Patients with Isolated Hypogonadotropic Hypogonadism and Split Hand/Foot Malformation

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