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Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar kera...

Authors: Nikos Protonotarios and Adalena Tsatsopoulou

Citation: Orphanet Journal of Rare Diseases 2006 1:4

Content type: Review Published on: 13 March 2006
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Celiac disease

Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins...

Authors: Wolfgang Holtmeier and Wolfgang F Caspary

Citation: Orphanet Journal of Rare Diseases 2006 1:3

Content type: Review Published on: 1 March 2006
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Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, altho...

Authors: Melanie Ehrlich, Kelly Jackson and Corry Weemaes

Citation: Orphanet Journal of Rare Diseases 2006 1:2

Content type: Review Published on: 1 March 2006
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Orphanet Journal of Rare Diseases: Launch Editorial

Authors: Ségolène Aymé, Bruno Dallapiccola and Dian Donnai

Citation: Orphanet Journal of Rare Diseases 2006 1:1

Content type: Editorial Published on: 1 March 2006
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Articles

Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect

Celiac disease

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

Orphanet Journal of Rare Diseases: Launch Editorial

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