Associated Papers
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Chikhaoui A et al.
Orphanet Journal of Rare Diseases, 2022
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K et al.
Genes, 2021
Mutant WD-repeat protein in triple-A syndrome.
Tullio-Pelet A et al.
Nature Genetics, 2000
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