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The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
- Source :
- International Journal of Dermatology; Dec2015, Vol. 54 Issue 12, p1426-1428, 3p
- Publication Year :
- 2015
-
Abstract
- The article presents a case study of a consanguineous family in Ben Ghazi, Libya which was presented to a laboratory in Tunisia due to a clinical diagnosis of Mal de Meleda (MDM) disease. MDM is a rare autosomal recessive palmoplantar keratoderma (PPK). In the study, the family was diagnosed to have the p.G86R mutation of MDM.
- Subjects :
- CONSANGUINITY
SKIN disease genetics
FUNGAL mutation
Subjects
Details
- Language :
- English
- ISSN :
- 00119059
- Volume :
- 54
- Issue :
- 12
- Database :
- Complementary Index
- Journal :
- International Journal of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 111003790
- Full Text :
- https://doi.org/10.1111/ijd.12373