Niemann-Pick disease type C. Skin biopsies in parents.
D000328:Adult; D001706:Biopsy; D002648:Child; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006580:Genetic Carrier Screening; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology*