NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

Authors :: Borck G
Redon R
Sanlaville D
Rio M
Prieur M
Lyonnet S
Vekemans M
Carter NP
Munnich A
Colleaux L
Cormier-Daire V
Source :: Journal of medical genetics [J Med Genet] 2004 Dec; Vol. 41 (12), pp. e128.
Publication Year :: 2004

Subjects :: Adolescent
Adult
Cell Cycle Proteins
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 18
Cytogenetic Analysis
Female
Follow-Up Studies
Humans
Infant
Karyotyping
Male
Parents
De Lange Syndrome genetics
Genetic Heterogeneity
Mutation
Proteins genetics

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