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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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Enregistré dans:
Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Mahdieh, Nejat, Soveizi, Mahdieh, Tavasoli, Ali Reza, Rabbani, Ali, Ashrafi, Mahmoud Reza, Kohlschütter, Alfried, Rabbani, Bahareh
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2021
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7864965/
https://ncbi.nlm.nih.gov/pubmed/33547378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-82778-0
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