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Literature DB >> 8336172

Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII.

R Capra¹, F Mattioli, B Kalman, N Marcianò, A Berenzi, A Benetti.

Abstract

Two of four sisters have multiple sclerosis (MS), lamellar ichthyosis, beta thalassaemia minor and a quantitative deficit of factor VIII-von Willebrand complex. The mother and the other sisters have only beta thalassaemia minor. The association of MS and a cluster of genetically determined diseases is rare. Such families could offer a new approach to the investigation of the polygenetic background of MS.

Entities: Disease

Mesh：

Year: 1993 PMID： 8336172 DOI： 10.1007/bf00839963

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

23 in total

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6 in total

Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII.

1. Disseminated sclerosis in South Africa; its relationship to swayback disease and suggested treatment.

Review 2. Multiple sclerosis.

3. Histocompatibility determinants in multiple sclerosis.

Review 4. Multiple sclerosis: epidemiology and HLA associations.

5. Parent-child concordance in multiple sclerosis.

Review 6. von Willebrand disease.

7. Multiple sclerosis: immunogenetic analyses of sib-pair double case families. II. Studies on the association of multiple sclerosis with C2, C4, BF, C3, C6, and GLO polymorphisms.

8. HLA and multiple sclerosis: population and families study.

9. Inducibility of Ia molecules on keratinocytes reflects genetic control on astrocytes in the brain.

10. On the presence of Ia-positive endothelial cells and astrocytes in multiple sclerosis lesions and its relevance to antigen presentation.

1. Inherited Bleeding Disorders in North Indian Children: 14 years' Experience from a Tertiary Care Center.

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4. Sickle cell-β thalassemia with concomitant hemophilia A: a rare presentation.

5. Could Heterozygous Beta Thalassemia Provide Protection Against Multiple Sclerosis?

6. A first description of the Colombian national registry for rare diseases.