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Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports

INTRODUCTION: 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 ARS (component B) gene (ARS, MIM: 606119) on chromosome 8q24.3 have been identi...

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Detalles Bibliográficos
Autores principales: Bchetnia, Mbarka, Merdassi, Ahlem, Charfeddine, Cherine, Mgaieth, Fatma, Kassar, Selma, Ouechtati, Farah, Chouchene, Ibtissem, Boussen, Hamouda, Mokni, Mourad, Osman, Amel Dhahri-Ben, Boubaker, Med Samir, Abdelhak, Sonia, Elmatri, Leila
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874570/
https://www.ncbi.nlm.nih.gov/pubmed/20406438
http://dx.doi.org/10.1186/1752-1947-4-108