... Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney ...

... of a heterozygous RRM2B pathogenic variant confirms the diagnosis of autosomal dominant RRM2B -related mitochondrial disease. A different strategy for establishing the molecular diagnosis ...

... pathogenic variants in LMNB1 . Differential Diagnosis The differential diagnosis of autosomal dominant leukodystrophy with autonomic disease (ADLD) includes other leukodystrophies with adult onset as ...

... OI overlap phenotypes [ Cabral et al 2005 ], or autosomal dominant infantile cortical hyperostosis ( Caffey disease ). Differential Diagnosis Other forms of Ehlers-Danlos syndrome (EDS) should ...

... hypoplasia and molar tooth sign. Cystic renal disease Autosomal dominant polycystic kidney disease (ADPKD). The diagnosis of ADPKD has been made in some individuals ...

... girdle, autosomal recessive and Muscular dystrophy, limb-girdle, autosomal dominant . Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with glycogen ...

... AATD), PTPN6 -type emphysema is inherited as an autosomal dominant condition. Liver Disease See Table 5 for genetic disorders to consider in the differential diagnosis of AATD-related liver disease. The differential diagnosis ...