Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions

Terminal microdeletions of the long arm of chromosome 6 are associated with a phenotype that includes multiple brain malformations, intellectual disability, and epilepsy. A 1.7-Mb region has been proposed to contain a gene responsible for the brain anomalies. Here, we present the case of a 12-year-o...

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Veröffentlicht in:Mol Syndromol
Hauptverfasser: Hanna, Marcela D., Moretti, Patricia N., P. de Oliveira, Claudiner, A. Rosa, Maria T., R. Versiani, Beatriz, de Oliveira, Silviene F., Pic-Taylor, Aline, F. Mazzeu, Juliana
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2019
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6738255/
https://ncbi.nlm.nih.gov/pubmed/31602192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000501008
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