A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

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...

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Bibliografski detalji
Izdano u:Front Pediatr
Glavni autori: Taghdiri, Maryam, Dastsooz, Hassan, Fardaei, Majid, Mohammadi, Sanaz, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2017
Teme:
Pediatrics
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5552663/
https://ncbi.nlm.nih.gov/pubmed/28848724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00169
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