Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Barøy, Tuva ^a   Misceo, Doriana ^a   Strømme, Petter ^b,c   Stray Pedersen, Asbjørg ^a   Holmgren, Asbjørn ^a   Rødningen, Olaug Kristin ^a   Blomhoff, Anne ^a   Helle, Johan Robert ^a   Stormyr, Alice ^a   Tvedt, Bjørn ^b   Fannemel, Madeleine ^a   Frengen, Eirik ^a  

^a UNIVERSITY OF OSLO   (Norway)

^b ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

Author keywords

6p22 p24 deletion; 6p22.3; aCGH; ATXN1; Behavioural abnormalities; DTNBP1; Gait disturbance; Intellectual disability; JARID2

Indexed keywords

ATAXIN 1; DYSBINDIN; HISTONE; JARID2 PROTEIN; NOTCH RECEPTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMATIN; CHROMOSOME 6P; CLINICAL ARTICLE; COGNITION; COGNITIVE DEFECT; FACE DYSMORPHIA; FEMALE; GAIT DISORDER; GENE DELETION; GENE EXPRESSION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MIDFACE HYPOPLASIA; NERVE CELL DIFFERENTIATION; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GAIT; HAPLOINSUFFICIENCY; HISTONES; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYCOMB REPRESSIVE COMPLEX 2; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 84871906410     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-3     Document Type: Article

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