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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Vydáno v:BMC Med Genet
Hlavní autoři: Chebly, Alain, Corbani, Sandra, Abou Ghoch, Joelle, Mehawej, Cybel, Megarbane, André, Chouery, Eliane
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
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Research Article
On-line přístup: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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