https://www.selleckchem.com/pr....oducts/mitoquinone-m
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross-complementation group 6 (ERCC6 OMIM *609413) is the gene most frequently mutated in CS. A child with pre and postnatal growth failure and progressive neurologic deterioration with multisystem involvement, and with nondiagnostic whole-exome sequencing, was screened for causal variants with whole-genome sequencing (WGS). WGS identified biallelic ERCC6 variants, including a previou
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