Article
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
American journal of medical genetics. Part A - 1 Jun 2013
Kosho Tomoki, Okamoto Nobuhiko, Ohashi Hirofumi, Tsurusaki Yoshinori, Imai Yoko, Hibi-Ko Yumiko, Kawame Hiroshi, Homma Tomomi, Tanabe Saori, Kato Mitsuhiro, Hiraki Yoko, Yamagata Takanori, Yano Shoji, Sakazume Satoru, Ishii Takuma, Nagai Toshiro, Ohta Tohru, Niikawa Norio, Mizuno Seiji, Kaname Tadashi, Naritomi Kenji, Narumi Yoko, Wakui Keiko, Fukushima Yoshimitsu, Miyatake Satoko, Mizuguchi Takeshi, Saitsu Hirotomo, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. We detail here the genotype-phenotype correlations for 85 previously published and one additional patient with mutations in the SWI/SNF complex:...
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