Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes

Human Mutation

Volumn 35, Issue 1, 2014, Pages 58-62

  Qiao, Ying ^a   Mondal, Kajari ^b   Trapani, Valentina ^c   Wen, Jiadi ^a   Carpenter, Gillian ^d   Wildin, Robert ^e   Price, E Magda ^a,f   Gibbons, Richard J ^g   Eichmeyer, Jennifer ^e   Jiang, Ruby ^f   Dupont, Barbara ^h   Martell, Sally ^a   Lewis, Suzanne M E ^a   Robinson, Wendy P ^a,f   O'Driscoll, Mark ^d   Wolf, Federica I ^c   Zwick, Michael E ^b   Rajcan Separovic, Evica ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CATHOLIC UNIVERSITY   (Italy)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

^e St Lukes Childrens Hospital   (United States)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^g JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^h GREENWOOD GENETIC CENTER   (United States)

Author keywords

ATRX; Chromosome X; CNV; Exome; Intellectual disability; MAGT1

Indexed keywords

RIBOSOME DNA; RNA;

ARTICLE; ATRX GENE; ATRX SYNDROME; CELL FUNCTION; DNA METHYLATION; DNA REPAIR; EXOME; EXON; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENOMIC INSTABILITY; HAPLOTYPE; HUMAN; IMMUNE DEFICIENCY; INTELLECTUAL IMPAIRMENT; MAGT1 GENE; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; X CHROMOSOME;

CATION TRANSPORT PROTEINS; CHROMOSOMES, HUMAN, X; CYTOKINESIS; DNA HELICASES; DNA METHYLATION; DNA, RIBOSOMAL; EXOME; FEMALE; GENES, DUPLICATE; HUMANS; INTRONS; MAGNESIUM; MALE; MENTAL RETARDATION, X-LINKED; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; POINT MUTATION; PRURITUS; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84890796071     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22465     Document Type: Article

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