Article
Cornelia de Lange syndrome.
Clinical genetics - 1 Jul 2015
Boyle M I, Jespersgaard C, Brøndum-Nielsen K, Bisgaard A-M, Tümer Z
Abstract excerpt
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric...
Topics
- Cell Cycle Proteins
- Child, Preschool
- Chondroitin Sulfate Proteoglycans
- Chromosomal Proteins, Non-Histone
- DNA-Binding Proteins
- De Lange Syndrome
- Female
- Histone Deacetylases
- Humans
- Male
- Mutation