Oral 9: Bone & minerals, Others (CCS, dyslipidemia, etc), Growth and Puberty, DSD

[O9-1] FGFR1 mutations in four patients with congenital hypogonadotropic hypogonadism and split-hand/foot malformation: implications for the FGFR1 proximal promoter region

^○Kohnosuke Ohtaka¹, Yasuko Fujisawa¹, Rie Yamaguchi¹, Fumiko Kato¹, Hideaki Yagasaki¹, Tatsuya Miyoshi², Yukihiro Hasegawa², Tomonobu Hasegawa³, Hideaki Miyoshi⁴, Fumio Takada⁵, Momori Katsumi⁶, Maki Fukami⁶, Tsutomu Ogata¹ (1.Department of Pediatrics, Hamamatsu University School of Medicine, 2.Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, 3.Department of Pediatrics, Keio University school of Medicine, 4.Division of Rheumatology, Endocrinology and Nephrology, Hokkaido University Graduate School of Medicine, 5.Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, 6.Department of Molecular Endocrinology, National Research Institute for Child Health and Development)