Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1589-1596

  Mannini, Linda ^a   Cucco, Francesco ^a,b   Quarantotti, Valentina ^a   Krantz, Ian D ^c   Musio, Antonio ^a  

^a CNR   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cornelia de Lange syndrome; HDAC8; NIPBL; RAD21; SMC1A; SMC3

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COHESIN; HISTONE DEACETYLASE 8; PROTEIN; RAD21 PROTEIN; SMC1A PROTEIN; SMC3 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DE LANGE SYNDROME; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HELA CELL; HUMAN; HUMAN CELL; INDEL MUTATION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

CORNELIA DE LANGE SYNDROME; HDAC8; NIPBL; RAD21; SMC1A; SMC3;

CELL CYCLE PROTEINS; CHONDROITIN SULFATE PROTEOGLYCANS; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; FACIES; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHOPROTEINS; PROTEINS;

EID: 84887615981     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22430     Document Type: Article

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