Article
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
European journal of human genetics : EJHG - 1 Nov 2013
Higashimoto Ken, Maeda Toshiyuki, Okada Junichiro, Ohtsuka Yasufumi, Sasaki Kensaku, Hirose Akiko, Nomiyama Makoto, Takayanagi Toshimitsu, Fukuzawa Ryuji, Yatsuki Hitomi, Koide Kayoko, Nishioka Kenichi, Joh Keiichiro, Watanabe Yoriko, Yoshiura Koh-ichiro, Soejima Hidenobu
Abstract excerpt
Perlman syndrome is a rare, autosomal recessive overgrowth disorder. Recently, the deletion of exon 9 and other mutations of the DIS3L2 gene have been reported in patients; however, the mechanism behind this deletion is still unknown. We report the homozygous deletion of exon 9 of DIS3L2 in a Jap...
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