Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome

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 Japane...

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Detalhes bibliográficos
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3798850/
https://ncbi.nlm.nih.gov/pubmed/23486540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.45
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