Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity. This rare disease is linked to disease-causing variations in the ERCC6 (CSB) and ERCC8...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2018
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891492/
https://ncbi.nlm.nih.gov/pubmed/29422660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0009-y
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker