Article
A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
Photodermatology, photoimmunology & photomedicine - 1 Jul 2016
Ono Ryusuke, Masaki Taro, Mayca Pozo Franklin, Nakazawa Yuka, Swagemakers Sigrid M A, Nakano Eiji, Sakai Wataru, Takeuchi Seiji, Kanda Fumio, Ogi Tomoo, van der Spek Peter J, Sugasawa Kaoru, Nishigori Chikako
Abstract excerpt
BACKGROUND: Most patients with xeroderma pigmentosum complementation group D (XP-D) from Western countries suffer from neurological symptoms, whereas Japanese patients display only skin manifestations without neurological symptoms. We have previously suggested that these differences in clinical manifestations in XP-D patients are attributed partly to a predominant mutation in ERCC2, and the allele frequency of...
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