Contreras CNA, Mancillas ALG

Language: Spanish
References: 13
Page: 211-216
PDF size: 409.14 Kb.

ABSTRACT

Von Hippel Lindau (VHL) disease is an autosomal dominant disorder that causes retinal hemangioblastomas, hemangioblastomas of the central nervous system, endolymphatic sac tumors, renal cell carcinomas, pancreatic cysts and tumors, pheochromocytomas and epididymal cystadenomas, among other less common manifestations. Mucopolysacharidosis IVB or Morquio B type disease, is a hereditary disease that belongs to the group of the mucopolisacaridos diseases of storage of. S protein is a vitamin K-dependent protein, synthesized in hepatic and endotelial cells that works as a cofactor for the anticoagulating effects of C protein. The Retinitis Pigmentosa or Retinosis Pigmentaria (RP), is a set of hereditary anomalies that of primary, diffuse and progressive way that affects the function of the photoreceptor cells and pigmentary epitelium. All these diseases, as the small cells lung carcinoma, has been associated to alterations of chromosome 3.

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