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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Vydáno v:Front Pediatr
Hlavní autoři: Taghdiri, Maryam, Dastsooz, Hassan, Fardaei, Majid, Mohammadi, Sanaz, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2017
Témata:
Pediatrics
On-line přístup: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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