Multiple tuberous xanthomas as the first manifestation of autosomal recessive hypercholesterolemia.
Siddi
G M
GM
Pes
G M
GM
Errigo
A
A
Corraduzza
G
G
Ena
P
P
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications / Q000235:genetics*; D012871:Skin Diseases / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D014973:Xanthomatosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology
D048868:Adaptor Proteins, Signal Transducing; C469745:LDLRAP1 protein, human