Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants

Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic ERCC8 (CS-A) or ERCC6 (CS-B) variants. In this study we describe siblings suffering from classical Cockayne syndrome but without pho...

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Detalles Bibliográficos
Autores principales: Duong, Nguyen Thuy, Dinh, Tran Huu, Möhl, Britta S., Hintze, Stefan, Quynh, Do Hai, Ha, Duong Thi Thu, Ngoc, Ngo Diem, Dung, Vu Chi, Miyake, Noriko, Hai, Nong Van, Matsumoto, Naomichi, Meinke, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320540/
https://www.ncbi.nlm.nih.gov/pubmed/35748794
http://dx.doi.org/10.18632/aging.204139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320540/
https://www.ncbi.nlm.nih.gov/pubmed/35748794
http://dx.doi.org/10.18632/aging.204139

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