Presentation Information
[P1-08-8]Clinical features of Cockayne syndrome type B in a Japanese girl: Novel ERCC6 compound heterozygous mutations found
Munetsugu Hara1, Kaori Fukui1, Daisuke Yamashita1, Ryuta Ishii1, Takayoshi Koike1, Ryuta Takase1, Yoriko Watanabe1, Hirotomo Saitsu2, Mitsuhiro Kato3 (1.Department of Pediatrics and Child Health, Kurume University, School of Medicine, Kurume, Japan, 2.Biochemistry Department, Hamamatsu University School of Medicine, 3.Department of Pediatrics, Showa University School of Medicine)
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