Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

<h4>Background</h4>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 m...

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Auteurs principaux: Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata
Format: article
Langue:EN
Publié: Public Library of Science (PLoS) 2013
Sujets:
Medicine
R
Science
Q
Accès en ligne:https://doaj.org/article/8288174ccaaa4443a29a1247cb62d067
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https://doaj.org/article/8288174ccaaa4443a29a1247cb62d067

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