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Exome sequencing in a family with an X‐linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients |
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| Authors: | Y Tsurusaki T Kosho K Hatasaki Y Narumi K Wakui Y Fukushima H Doi H Saitsu N Miyake N Matsumoto |
| Institution: | 1. Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, Japan;2. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan;3. Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama, Japan |
| Abstract: | |
| Keywords: | exome sequencing OFD1 OFD1 gene splicing mutation X‐linked congenital malformation syndrome |