2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 424-429

  Chung, Brian H Y ^a   Stavropoulos, James ^a,b   Marshall, Christian R ^c   Weksberg, Rosanna ^a,d   Scherer, Stephen W ^c,d   Yoon, Grace ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Developmental delay; Intellectual disability; MBD5; Microdeletion 2q23.1

Indexed keywords

AGGRESSION; ARTICLE; ATAXIA; BALANCE DISORDER; CASE REPORT; CHILD; CHROMOSOME DELETION 2Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DYSARTHRIA; DYSPHAGIA; FACE DYSMORPHIA; FEMALE; GENE DELETION; GROWTH RETARDATION; HAND MOVEMENT; HEAD CIRCUMFERENCE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MBD5 GENE; MICROCEPHALY; OBSESSIVE COMPULSIVE DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SHORT STATURE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; FACE; FEMALE; HUMANS; MICROCEPHALY;

EID: 79251528582     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33821     Document Type: Article

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