Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

Human Mutation

Volumn 31, Issue 11, 2010, Pages 1216-1222

  Oliveira, Jorge ^a   Dias, Cristina ^a,d   Redeker, Egbert ^b   Costa, Eurico ^a   Silva, João ^a   Reis Lima, Margarida ^a,e   Den Dunnen, Johan T ^c   Santos, Rosário ^a  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^e Hospital da Boavista   (Portugal)

Author keywords

Cornelia de Lange Syndrome; Leiden Open Variation Database; Locus Specific Database; NIPBL

Indexed keywords

ARTICLE; DE LANGE SYNDROME; FACIES; GENE; GENE MUTATION; GENETIC DATABASE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHIC ORIGIN; GROWTH RETARDATION; HUMAN; LIMB MALFORMATION; NIPBL GENE; PRIORITY JOURNAL;

EID: 78049443024     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21352     Document Type: Article

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