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FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region
Authors:Kohnosuke Ohtaka  Yasuko Fujisawa  Fumio Takada  Yukihiro Hasegawa  Tatsuya Miyoshi  Tomonobu Hasegawa  Hideaki Miyoshi  Hiraku Kameda  Misuzu Kurokawa‐Seo  Maki Fukami  Tsutomu Ogata
Institution:1. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan;2. Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan;3. Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan;4. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;5. Division of Rheumatology, Endocrinology and Nephrology, Hokkaido University Graduate School of Medicine, Sapporo, Japan;6. Division of Life Sciences, Graduate School of Life Sciences, Kyoto Sangyo University, Kyoto, Japan;7. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
Abstract:
Keywords:FGFR1  hypogonadotropic hypogonadism  split‐hand/foot malformation  microdeletion  promoter
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