Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata
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N. Tanaka | H. Ohashi | S. Ikegawa | A. Miyahara | G. Nishimura | A. Mabuchi | H. Kura | H. Kitoh | Y. Yokoyama | M. Tsutsumi | T. Ikeda | S. Shirahama | Koki Yamada | Akihiko Kawase | Akira Honda