Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

Gene

Volumn 572, Issue 1, 2015, Pages 130-134

  Boyle, Martine Isabel ^a   Jespersgaard, Cathrine ^a   Nazaryan, Lusine ^a   Ravn, Kirstine ^a   Brøndum Nielsen, Karen ^a   Bisgaard, Anne Marie ^a   Tümer, Zeynep ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

11q12.3 11q13.1; CDCA5; Cornelia de Lange syndrome; Intellectual disability; NRXN2; PPP2R5B

Indexed keywords

ADULT; ARTICLE; AUTISM; BEHAVIOR DISORDER; CASE REPORT; CELL DIVISION CYCLE ASSOCIATED PROTEIN 5 GENE; CHROMOSOME 11Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; DE LANGE SYNDROME; DYSPHAGIA; FACE DYSMORPHIA; FACIES; GASTROESOPHAGEAL REFLUX; GENE; GENE MUTATION; HISTONE DEACETYLASE 8 GENE; HUMAN; HUMAN CELL; HUMAN HOMOLOG OF SCHIZOSACCHAROMYCES POMBE RADIATION SENSITIVE MUTANT 21 GENE; INTELLECTUAL IMPAIRMENT; MALE; NEUREXIN 2 GENE; NIPPED B LIKE GENE; PRIORITY JOURNAL; PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B BETA GENE; SKELETON MALFORMATION; STRUCTURAL MAINTENANCE CHROMOSOMES 3 GENE; STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A GENE; YOUNG ADULT; CHROMOSOME 11; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; GENE DELETION; GENETICS; PATHOLOGY; PRESCHOOL CHILD;

CDCA5 PROTEIN, HUMAN; CELL CYCLE PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN; NEUREXIN II; PHOSPHOPROTEIN PHOSPHATASE 2; PPP2R5B PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CELL CYCLE PROTEINS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL ABNORMALITIES; DE LANGE SYNDROME; DIAGNOSIS, DIFFERENTIAL; GENE DELETION; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PROTEIN PHOSPHATASE 2; YOUNG ADULT;

EID: 84940593173     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.07.016     Document Type: Article

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