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Hypocalcified autosomal recessive amelogenesis imperfecta—A case report
Hypocalcified Autosomal Recessive Consanguineous Discoloration
2013/2/19
Amelogenesis imperfecta is an unusual hereditory disorder affecting both primary and permanent dentition. We present a rare case of hypocalcified auto-somal recessive amelogenesis imperfecta occuring ...
Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN
Alport syndrorme Hereditary nephritis IRAN
2009/12/30
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosoma...
Autosomal recessive polycystic kidney disease: a case report
Polycystic kidney disease Autosomal recessive Hepatic involvement Biliary dysgenesis
2009/12/24
Background: Autosomal recessive polycystic kidney disease is characterized by renal collecting duct cysts, congenital hepatic fibrosis (biliary dysgenesis) and autosomal recessive pattern of inheritan...
Autosomal Recessive Chronic Granulomatous Disease,IgA Deficiency and Refractory Autoimmune Thrombocytopenia Responding to Anti-CD20 Monoclonal Antibody
Anti-CD20 Autoimmune thrombocytopenia Chronic granulomatous disease IgA deficiency Primary immunodeficiency diseases
2009/12/17
Immunodeficiency and autoimmune disease may occur concomitantly in the same individual. Some of the immunodeficiency syndromes, especially humoral defects are associated with autoimmune disorders. Hem...
Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran
Connexin 26 GJB2 Deafness Autosomal recessive non syndromic hearing loss Iran
2010/2/4
Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 (connexin 26) gene located on “DFNB1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromi...