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