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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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| Publicado no: | Front Pediatr |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2017
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| Assuntos: | |
| Acesso em linha: | 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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