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

Volumn 161, Issue 6, 2013, Pages 1221-1237

  Kosho, Tomoki ^a   Okamoto, Nobuhiko ^b   Ohashi, Hirofumi ^c   Tsurusaki, Yoshinori ^d   Imai, Yoko ^e   Hibi Ko, Yumiko ^e   Kawame, Hiroshi ^f,g   Homma, Tomomi ^h   Tanabe, Saori ⁱ   Kato, Mitsuhiro ^j   Hiraki, Yoko ^k   Yamagata, Takanori ^l   Yano, Shoji ^m   Sakazume, Satoru ⁿ   Ishii, Takuma ^n,o   Nagai, Toshiro ⁿ   Ohta, Tohru ^p   Niikawa, Norio ^p   Mizuno, Seiji ^q   Kaname, Tadashi ^r   Naritomi, Kenji ^r   Narumi, Yoko ^a   Wakui, Keiko ^a   Fukushima, Yoshimitsu ^a   Miyatake, Satoko ^d   Mizuguchi, Takeshi ^d   Saitsu, Hirotomo ^d   Miyake, Noriko ^d   Matsumoto, Naomichi ^d   more..

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^d YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e JAPANESE RED CROSS MEDICAL CENTER   (Japan)

^f OCHANOMIZU UNIVERSITY   (Japan)

^g NAGANO CHILDREN'S HOSPITAL   (Japan)

^h Yamagata Prefectural Shinjo Hospital   (Japan)

ⁱ Department of Pediatrics   (Japan)

^j YAMAGATA UNIVERSITY   (Japan)

^k Hiroshima Municipal Center for Child Health and Development   (Japan)

^l JICHI MEDICAL UNIVERSITY   (Japan)

^m UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

ⁿ DOKKYO MEDICAL UNIVERSITY   (Japan)

^o Nakagawa No Sato (Hospital for the Disabled)   (Japan)

^p HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^q INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^r UNIVERSITY OF THE RYUKYUS   (Japan)

more..

Author keywords

ARID1A; ARID1B; Coffin Siris syndrome; Intellectual disability (ID); Nicolaides Baraitser syndrome; SMARCA2; SMARCA4; SMARCB1; SMARCE1; SWI SNF complex

Indexed keywords

PROTEIN SWI; TRANSCRIPTION FACTOR SNF; ARID1A PROTEIN, HUMAN; ARID1B PROTEIN, HUMAN; DNA BINDING PROTEIN; DNA HELICASE; NONHISTONE PROTEIN; NUCLEAR PROTEIN; SMARCA2 PROTEIN, HUMAN; SMARCA4 PROTEIN, HUMAN; SMARCB1 PROTEIN, HUMAN; SMARCE1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARIDIA GENE; ARIDIB GENE; ARTICLE; COFFIN SIRIS SYNDROME; DISEASE SEVERITY; FACE MALFORMATION; GENE; GENE MUTATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MUTATIONAL ANALYSIS; NAIL HYPOPLASIA; NICOLAIDES BARAITSER SYNDROME; PRIORITY JOURNAL; SCANTY HAIR; SHORT STATURE; SMARCA2 GENE; SMARCA4 GENE; SMARCB1 GENE; SMARCE1 GENE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CONGENITAL MALFORMATION; FACE; FACIES; FEMALE; FOOT MALFORMATION; GENETIC ASSOCIATION STUDY; GENETICS; HAND MALFORMATION; HYPOTRICHOSIS; INTELLECTUAL IMPAIRMENT; MALE; MICROGNATHIA; MULTIPLE MALFORMATION SYNDROME; MUTATION; NECK; SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA HELICASES; DNA-BINDING PROTEINS; FACE; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPOTRICHOSIS; INTELLECTUAL DISABILITY; MALE; MICROGNATHISM; MUTATION; NECK; NUCLEAR PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84878236164     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35933     Document Type: Article

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