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First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
BACKGROUND: Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by neurological and sensorial impairment, dwarfism, microcephaly and photosensitivity. CS is caused by mutations in ERCC6 (CSB) or ERCC8 (CSA) genes. METHODS: Three patients with CS were referred to the Medical G...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6131905/ https://ncbi.nlm.nih.gov/pubmed/30200888 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0677-7 |
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