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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131905/ https://www.ncbi.nlm.nih.gov/pubmed/30200888 http://dx.doi.org/10.1186/s12881-018-0677-7 |