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


Arslan E. A. , Oncel I., Ceylan A. C. , TOPÇU M. , Topaloglu H.

BRAIN & DEVELOPMENT, cilt.42, sa.1, ss.6-18, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 42 Konu: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.braindev.2019.08.004
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Sayfa Sayıları: ss.6-18

Özet

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