Presentation Information
[P2-04-23]Novel causative gene for ciliopathy; biallelic loss-of-function of CCP110 causes growth failure and skeletal defects
○Hisato Suzuki1,2, Yukako Muramatsu3, Fuyuki Miya1, Hideyuki Asada4, Mamiko Yamada1, Gen Nishimura5, Kenjiro Kosaki1, Toshiki Takenouchi6 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Medical Genetics, Institute of Medicine, University of Tsukuba, Ibaraki, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan, 4.Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Aichi, Japan, 5.Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan, 6.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)