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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Spondylocostal Dysostosis[original query]
Response to Lefebvre et al.
Clinical genetics 2017 10 92 (5): 563-564.
Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T, , Nakamura M, Matsumoto M, Watanabe K, Ikegawa
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Human mutation 2017 03 38 (3): 317-323.
Takeda Kazuki, Kou Ikuyo, Kawakami Noriaki, Iida Aritoshi, Nakajima Masahiro, Ogura Yoji, Imagawa Eri, Miyake Noriko, Matsumoto Naomichi, Yasuhiko Yukuto, Sudo Hideki, Kotani Toshiaki, , Nakamura Masaya, Matsumoto Morio, Watanabe Kota, Ikegawa Shi
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