Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari, Morad

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. [electronic resource] - Journal of medical genetics Oct 2014 - 659-68 p. digital

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

1468-6244

10.1136/jmedgenet-2014-102573 doi


De Lange Syndrome--genetics
Face--pathology
Genetic Association Studies
Genetic Heterogeneity
Humans
Mosaicism
Mutation
Phenotype