Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Chatfield, Kathryn C

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. [electronic resource] - American journal of medical genetics. Part A Oct 2012 - 2499-505 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.35582 doi


Cell Cycle Proteins--genetics
Chondroitin Sulfate Proteoglycans--genetics
Chromosomal Proteins, Non-Histone--genetics
De Lange Syndrome--genetics
Female
Genetic Association Studies
Genotype
Heart Defects, Congenital--diagnosis
Humans
Male
Mutation
Phenotype
Proteins--genetics
Severity of Illness Index
Structural Maintenance of Chromosome Protein 1