Article
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
Journal of medical genetics - 1 Dec 2004
Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter N P, Munnich A, Colleaux L, Cormier-Daire V
Abstract excerpt
No abstract is available from the source.
Topics
- Adolescent
- Adult
- Cell Cycle Proteins
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosomes, Human, Pair 18
- Cytogenetic Analysis
- De Lange Syndrome
- Female
- Follow-Up Studies
- Genetic Heterogeneity
- Humans
- Infant
- Karyotyping
- Male
- Mutation
- Parents
