Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

HIGHLIGHTS

• who: Khouloud Zayoud and colleagues from the Laboratory of Biomedical and Oncogenetics (LR IPT05), Institut Pasteur de have published the Article: Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B, in the Journal: Genes 2021, 12, x FOR PEER REVIEW of /2021/
• what: The authors report here the clinical genetic and functional analyses of three unrelated patients mutated in ERCC6/CSB with severe phenotype. This study was conducted in accordance with Helsinki principles and approved by Institute Pasteur Ethics Committee in Tunisia under the ethical . . .
  

   

  

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