Article
Cornelia de Lange syndrome, cohesin, and beyond.
Clinical genetics - 1 Oct 2009
Liu J, Krantz I D
Abstract excerpt
Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system abnormalities which is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Mutations in three cohesin proteins, a key regulator of cohesin, NIPBL, and two structural...
Topics
- Cell Cycle Proteins
- Chondroitin Sulfate Proteoglycans
- Chromosomal Proteins, Non-Histone
- De Lange Syndrome
- Humans
- Mutation
- Proteins
- Cohesins
- Structural Maintenance of Chromosome Protein 1