3 Result(s)
within
Sonia Abdelhak
Medicine & Public Health
Medicine/Public Health, general
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Article
Open AccessCoexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the AR...
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Article
Open AccessFounder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogeni...
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Article
Open AccessHeterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA dama...
