✦ LIBER ✦

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

✍ Scribed by Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Ohashi, Hirofumi; Kosho, Tomoki; Imai, Yoko; Hibi-Ko, Yumiko; Kaname, Tadashi; Naritomi, Kenji; Kawame, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Homma, Tomomi; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Mizuno, Seiji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Shiina, Masaaki; Ogata, Kazuhiro; Ohta, Tohru; Niikawa, Norio; Miyatake, Satoko; Okada, Ippei; Mizuguchi, Takeshi; Doi, Hiroshi; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi

Book ID: 120248744
Publisher: Nature Publishing Group
Year: 2012
Tongue: English
Weight: 383 KB
Volume: 44
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng.2219

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Coffin-Siris syndrome and related disord

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

✍ Kosho, Tomoki; Miyake, Noriko; Carey, John C. 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 631 KB

Clinical correlations of mutations affec

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

✍ Kosho, Tomoki; Okamoto, Nobuhiko; Ohashi, Hirofumi; Tsurusaki, Yoshinori; Imai, 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 595 KB