Dent disease with compound heterozygous mutations leading to severe chronic renal failure in a female patient.
Holder
Martin
M
Bald
Martin
M
Leichter
Heinz E
HE
Ludwig
Michael
M
D002118:Calcium / Q000652:urine; D002648:Child; D012080:Chronic Kidney Disease-Mineral and Bone Disorder / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007669:Kidney Calculi / Q000150:complications / Q000235:genetics* / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D007687:Kidney Tubules, Proximal / Q000473:pathology*; D008297:Male; D009154:Mutation
D002118:Calcium