Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Sim, Joe C H ^a   White, Susan M ^a,b   Fitzpatrick, Elizabeth ^a   Wilson, Gabrielle R ^a,b   Gillies, Greta ^a   Pope, Kate ^a   Mountford, Hayley S ^a   Torring, Pernille M ^c   McKee, Shane ^d   Vulto Van Silfhout, Anneke T ^e   Jhangiani, Shalini N ^f   Muzny, Donna M ^f   Leventer, Richard J ^a,b,g   Delatycki, Martin B ^a,b,h   Amor, David J ^a,b   Lockhart, Paul J ^a,b  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

^d BELFAST CITY HOSPITAL   (United Kingdom)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h AUSTIN HEALTH   (Australia)

Author keywords

ARID1B mutation; Cell cycle; Chromatin remodelling; Coffin Siris syndrome; Haploinsufficiency; Intellectual disability

Indexed keywords

ARTICLE; AT RICH INTERACTIVE DOMAIN 1B GENE; CELL COUNT; CELL CYCLE S PHASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EYELASH; FACE DYSMORPHIA; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PALPEBRAL FISSURE; PHENOTYPE; PRESCHOOL CHILD; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SPEECH DISORDER; STARVATION;

ABNORMALITIES, MULTIPLE; CELL CYCLE; CHROMATIN ASSEMBLY AND DISASSEMBLY; DNA-BINDING PROTEINS; FACE; FEMALE; HAND DEFORMITIES, CONGENITAL; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROGNATHISM; NECK; TRANSCRIPTION FACTORS;

EID: 84899580419     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-43     Document Type: Article

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