Episodic Ataxia Secondary to CEP290 Compound Heterozygous Mutations: A Case Report

Eitemau Tebyg

• A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
  gan: Rafalska, Agnieszka, et al.
  Cyhoeddwyd: (2020)
• A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in <i>CEP290</i>
  gan: Agnieszka Rafalska, et al.
  Cyhoeddwyd: (2020-10-01)
• Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia
  gan: Becker, Alyssa B., et al.
  Cyhoeddwyd: (2017)
• Expanding CEP290 mutational spectrum in ciliopathies
  gan: Travaglini, Lorena, et al.
  Cyhoeddwyd: (2009)
• Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
  gan: Coppieters, Frauke, et al.
  Cyhoeddwyd: (2010)