Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
نویسندگان
چکیده
Departments of Human Genetics and Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; Division of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Tenshi Hospital, Sapporo, Japan; Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital, Koshigaya, Japan; Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child health, Osaka, Japan; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Department of Medical Genetics, University of the Ryukyus, Nishihara, Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama , Japan; Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Tobetsu, Japan; Solution Oriented Research for Science and Technology (SORST), Japan Science and Technology Agency (JST), Tokyo, Japan.
منابع مشابه
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
BACKGROUND Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown. METHODS Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolution. RESULTS In one patient, a 250 kb de novo microdeletion at 20p12.1 was detected, deleting exo...
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عنوان ژورنال:
- Journal of medical genetics
دوره 45 7 شماره
صفحات -
تاریخ انتشار 2008