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

Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype. After clinical examination, two patients were investigated via next generati...

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Detalles Bibliográficos
Autores principales: Zayoud, Khouloud, Kraoua, Ichraf, Chikhaoui, Asma, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Crochemore, Clément, Najjar, Dorra, Zarrouk, Sinda, Miladi, Najoua, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701866/
https://www.ncbi.nlm.nih.gov/pubmed/34946871
http://dx.doi.org/10.3390/genes12121922

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701866/
https://www.ncbi.nlm.nih.gov/pubmed/34946871
http://dx.doi.org/10.3390/genes12121922

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