Article
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
Human genomics - 19 Jul 2021
Dehnavi Ali Zare, Heidari Erfan, Rasulinezhad Maryam, Heidari Morteza, Ashrafi Mahmoud Reza, Hosseini Mohammad Mahdi, Sadeghzadeh Fatemeh, Fallah Mohammad-Sadegh, Rostampour Noushin, Bahraini Amir, Garshasbi Masoud, Tavasoli Ali Reza
Abstract excerpt
BACKGROUND: Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroimaging findings; however, genetic tools, particularly whole-exome sequencing (WES), have led to comprehending the causative gene and molecular events contributing to these disorders. Mutation in...
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