KDM6A point mutations cause Kabuki syndrome.

@article{Miyake2013KDM6APM,
  title={KDM6A point mutations cause Kabuki syndrome.},
  author={Noriko Miyake and Seiji Mizuno and Nobuhiko Okamoto and Hirofumi Ohashi and Masaaki Shiina and Kazuhiro Ogata and Yoshinori Tsurusaki and Mitsuko Nakashima and Hirotomo Saitsu and Norio Niikawa and Naomichi Matsumoto},
  journal={Human mutation},
  year={2013},
  volume={34 1},
  pages={108-10}
}
Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as a causative gene. On the basis of published reports, 55-80% of KS cases can be explained by MLL2 abnormalities. Recently, de novo deletion of KDM6A has been reported in three KS patients, but point mutations of KDM6A have never been found. In this study, we investigated KDM6A in 32 KS… CONTINUE READING

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