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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2019
Konular:
Short Report
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller