Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

American Journal of Medical Genetics, Part A

Volumn 173, Issue 6, 2017, Pages 1566-1574

  Moss, Joanna ^a,b   Penhallow, Jessica ^a   Ansari, Morad ^c   Barton, Stephanie ^d   Bourn, David ^d   FitzPatrick, David R ^c   Goodship, Judith ^d   Hammond, Peter ^e   Roberts, Catherine ^c   Welham, Alice ^a   Oliver, Chris ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

behavioral phenotype; CdLS; Cornelia de Lange syndrome; genotype phenotype correlation

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; BEHAVIOR ASSESSMENT; BEHAVIOR CHANGE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPULSION; CONTROLLED STUDY; CORRELATION ANALYSIS; DE LANGE SYNDROME; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HDAC8 GENE; HUMAN; MALE; MIDDLE AGED; MOOD; NIPBL GENE; PLEASURE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SELF HELP; SMC1A GENE; YOUNG ADULT; AUTISM; EXOME; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE;

NIPBL PROTEIN, HUMAN; PROTEIN;

AUTISM SPECTRUM DISORDER; DE LANGE SYNDROME; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PHENOTYPE; PROTEINS;

EID: 85018593997     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38228     Document Type: Article

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