Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological findings from 2016 to 2019. Patients with a sugge...

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Detalles Bibliográficos
Autores principales: Mahdieh, Nejat, Soveizi, Mahdieh, Tavasoli, Ali Reza, Rabbani, Ali, Ashrafi, Mahmoud Reza, Kohlschütter, Alfried, Rabbani, Bahareh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864965/
https://www.ncbi.nlm.nih.gov/pubmed/33547378
http://dx.doi.org/10.1038/s41598-021-82778-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864965/
https://www.ncbi.nlm.nih.gov/pubmed/33547378
http://dx.doi.org/10.1038/s41598-021-82778-0

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