ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8287746/
https://www.ncbi.nlm.nih.gov/pubmed/34281620
http://dx.doi.org/10.1186/s40246-021-00345-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8287746/
https://www.ncbi.nlm.nih.gov/pubmed/34281620
http://dx.doi.org/10.1186/s40246-021-00345-0

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