Hereditary nephritis with macrothrombocytopenia: no longer an Alport syndrome variant
Author:
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
http://academic.oup.com/ndt/article-pdf/16/6/1101/23370651/161101.pdf
Reference16 articles.
1. Epstein CJ, Sahud MA, Piel CF, et al. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med1972; 52: 299–310
2. Peterson LC, Rao KV, Crosson JT, White JG. Fechtner syndrome: a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood1985; 65: 397–406
3. Toren A, Amariglio N, Rozenfeld‐Granot G, et al. Genetic linkage of autosomal‐dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11‐13. Am J Hum Genet1999; 65: 1711–1717
4. Toren A, Rozenfeld‐Granot G, Rocca B, et al. Autosomal‐dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11‐13. Blood2000; 96: 3447–3451
5. Cusano R, Gangarossa S, Forabosco P, et al. Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11‐q13. Eur J Hum Genet2000; 8: 895–899
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1. Macrothrombocytopenia, psychomotor retardation, and nephropathy: A novel familial syndrome;Saudi Journal of Kidney Diseases and Transplantation;2014
2. Epstein Syndrome Presenting as Renal Failure in Young Patients;Renal Failure;2009-01
3. Hereditäre Nierenerkrankungen;Therapie innerer Krankheiten;2003
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