A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

• Main Authors: Maryam Taghdiri (Author), Hassan Dastsooz (Author), Majid Fardaei (Author), Sanaz Mohammadi (Author), Mohammad Ali Farazi Fard (Author), Mohammad Ali Faghihi (Author)
• 格式: 图书
• 出版: Frontiers Media S.A., 2017-08-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity. This syndrome shows a variable age of onset and rate of progression, and its phenotypic spectrum include a w...