Y Tsurusaki, T Kosho, K Hatasaki, Y Narumi, K Wakui, Y Fukushima, H Doi, H Saitsu, N Miyake and N Matsumoto Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients Clinical Genetics 83
Article first published online: 1 MAY 2012 | DOI: 10.1111/j.1399-0004.2012.01885.x
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