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

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‐...

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Veröffentlicht in:	American journal of medical genetics. Part A 2013-06, Vol.161A (6), p.1221-1237
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics ARID1A ARID1B Body height Chromatin Assembly and Disassembly - genetics Chromosomal Proteins, Non-Histone - genetics Coffin-Siris syndrome DNA Helicases - genetics DNA-Binding Proteins - genetics Face - abnormalities Facies Female Foot Deformities, Congenital - genetics Genetic Association Studies Hand Deformities, Congenital - genetics Humans Hypotrichosis - genetics intellectual disability (ID) Intellectual Disability - genetics Male Micrognathism - genetics Mutation Neck - abnormalities Nicolaides-Baraitser syndrome Nuclear Proteins - genetics SMARCA2 SMARCA4 SMARCB1 SMARCB1 Protein SMARCE1 SWI/SNF complex Syndrome Transcription Factors - genetics
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