A Novel, Possibly Pathogenic, COL4A1 Gene Variant (c.3698G>A) in a Family With Childhood Epilepsy and Leukoencephalopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Aerospace Engineering
Reference9 articles.
1. Adult leukodystrophies: a step-by-step diagnostic approach;Resende LL;Radiographics,2019
2. Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease;Zagaglia S;Neurology,2018
3. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature;Meuwissen ME;Genet Med,2015
4. Role of COL4A1 in small-vessel disease and hemorrhagic stroke;Gould DB;N Engl J Med,2006
5. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps;Plaisier E;N Engl J Med,2007
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