Article
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
Human genetics - 1 Jan 2003
Shirahama Shuya, Miyahara Akira, Kitoh Hiroshi, Honda Akira, Kawase Akihiko, Yamada Koki, Mabuchi Akihiko, Kura Hideji, Yokoyama Yasunobu, Tsutsumi Masayoshi, Ikeda Toshiyuki, Tanaka Naomi, Nishimura Gen, Ohashi Hirofumi, Ikegawa Shiro
Abstract excerpt
X-linked dominant chondrodysplasia punctata (CDPX2) is a skeletal dysplasia characterized by stippled epiphyses, cataracts, alopecia and skin lesions, including ichthyosis. CDPX2 exhibits a number of perplexing clinical features, such as intra- and inter-familial variation, anticipation, incomplete penetrance and possible gonadal and somatic mosaicism. Recently, mutations in the gene encoding Delta8,Delta7 sterol...
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