Screening of known disease genes in congenital scoliosis

BACKGROUND: Congenital scoliosis (CS) is defined as a lateral curvature of the spine due to the vertebral malformations and has an incidence of 0.5–1/1,000 births. We previously examined TBX6 in Japanese CS patients and revealed that approximately 10% of CS was caused by TBX6 mutations. However, the...

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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Takeda, Kazuki, Kou, Ikuyo, Mizumoto, Shuji, Yamada, Shuhei, Kawakami, Noriaki, Nakajima, Masahiro, Otomo, Nao, Ogura, Yoji, Miyake, Noriko, Matsumoto, Naomichi, Kotani, Toshiaki, Sudo, Hideki, Yonezawa, Ikuho, Uno, Koki, Taneichi, Hiroshi, Watanabe, Kei, Shigematsu, Hideki, Sugawara, Ryo, Taniguchi, Yuki, Minami, Shohei, Nakamura, Masaya, Matsumoto, Morio, Watanabe, Kota, Ikegawa, Shiro
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2018
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305645/
https://ncbi.nlm.nih.gov/pubmed/30196550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.466
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