First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

Abstract 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 Me...

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Bibliographic Details
Main Authors: Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genetics
Subjects:
Cockayne
CS
ERCC8
ERCC6
Sanger sequencing
Lebanon
Online Access:http://link.springer.com/article/10.1186/s12881-018-0677-7

Internet

http://link.springer.com/article/10.1186/s12881-018-0677-7

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