Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2551-2556

  Guerin, Andrea ^a   Stavropoulos, Dimitri J ^a,b   Diab, Yaser ^a   Chénier, Sébastien ^a   Christensen, Hilary ^a   Kahr, Walter Ha ^a,b   Babul Hirji, Riyana ^a   Chitayat, David ^a,c  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

Author keywords

11q deletion; Autism; Jacobsen syndrome; Speech delay

Indexed keywords

ANEMIA; ARHGAP32 GENE; ARTICLE; AUTISM; BARX2 GENE; BLOOD TRANSFUSION; BRAIN MALFORMATION; C11ORF45 GENE; CASE REPORT; CHILD; CHROMOSOME 11Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 11Q; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; ETS1 GENE; FACE DYSMORPHIA; FEMALE; FLI1 GENE; GENE; HAPLOINSUFFICIENCY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; INTERSTITIAL CHROMOSOME DELETION; JACOBSEN SYNDROME; KCNJ1 GENE; KCNJ5 GENE; KIRREL3 GENE; LOC100507392 GENE; MICROARRAY ANALYSIS; MIR3167 GENE; NCRNA00288 GENE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PATENT FORAMEN OVALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYSTOLIC HEART MURMUR; TP53AIP1 GENE; TRIGONOCEPHALY;

BRAIN; CARRIER PROTEINS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; JACOBSEN DISTAL 11Q DELETION SYNDROME; MEMBRANE PROTEINS;

EID: 84866502866     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35621     Document Type: Article

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