A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
Abstract Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of m...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-06-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13256-017-1311-6 |