De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
Gil-Rodríguez, María Concepción, Deardorff, Matthew A., Ansari, Morad, Tan, Christopher A., Parenti, Ilaria, Baquero-Montoya, Carolina, Ousager, Lilian B., Puisac, Beatriz, Hernández-Marcos, María, TeVolume:
36
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.22761
Date:
April, 2015
File:
PDF, 935 KB
english, 2015