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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606247/
https://www.ncbi.nlm.nih.gov/pubmed/23533668
http://dx.doi.org/10.1371/journal.pone.0060105

Ejemplares similares

Ejemplares similares