Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata
Shuya Shirahama, Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Gen Nishimura(Musashino University), Hiroshi Kitoh(Nagoya University), Akihiko Mabuchi(The University of Tokyo), Akira Honda(Rutgers, The State University of New Jersey), Koki Yamada(Nagasaki University), Toshiyuki Ikeda(RIKEN), Akira Miyahara(Czech Academy of Sciences, Institute of Plasma Physics), Hideji Kura(Sapporo Medical University), Naomi Tanaka(University of Tsukuba Hospital), Yasunobu Yokoyama, Akihiko Kawase(Kumamoto City Hospital), Masayoshi Tsutsumi, Hirofumi Ohashi(Aichi Medical University)
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