A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

Nicolaides-Baraitser syndrome (NCBRS) is a rare and well-recognized entity that was first described in 1993, with a prevalence that is currently not known. It is recognized as a distinctive entity, with some variability in its signs and symptoms. The most important characteristics include intellectu...

Full description

Bibliographic Details
Main Authors: Ana Isabel Sánchez, Jorge Armando Rojas
Format: Article
Language:English
Published: Hindawi Limited 2017-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2017/8639617