Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

BACKGROUND: Recent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (upd(7)mat), as well as multilocus methylati...

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Detalhes bibliográficos
Main Authors: Fuke, Tomoko, Mizuno, Seiji, Nagai, Toshiro, Hasegawa, Tomonobu, Horikawa, Reiko, Miyoshi, Yoko, Muroya, Koji, Kondoh, Tatsuro, Numakura, Chikahiko, Sato, Seiji, Nakabayashi, Kazuhiko, Tayama, Chiharu, Hata, Kenichiro, Sano, Shinichiro, Matsubara, Keiko, Kagami, Masayo, Yamazawa, Kazuki, Ogata, Tsutomu
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3606247/
https://ncbi.nlm.nih.gov/pubmed/23533668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0060105
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