Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

Arslan, Elif Acar; Oncel, Ibrahim; Ceylan, Ahmet Cevdet; Topcu, Meral; Topaloglu, Haluk

doi:10.1016/j.braindev.2019.08.004

Published January 1, 2020 | Version v1

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Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

1. Hacettepe Univ, Sch Med, Dept Child Neurol, Ankara, Turkey
2. Yildirim Beyazit Univ, Ataturk Hosp, Dept Med Genet, Ankara, Turkey

Background: The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them.

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March 15, 2021

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BRAIN & DEVELOPMENT, 42(1), 6-18, 2020.

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Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

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bib-59b95936-b86d-4f9a-b3f5-0aa371d52fd9.txt

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Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

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bib-59b95936-b86d-4f9a-b3f5-0aa371d52fd9.txt

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