Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.
A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.
D000012:Abetalipoproteinemia / Q000145:classification* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000328:Adult; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000145:classification* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007009:Hypolipoproteinemias / Q000145:classification*; D008297:Male; D008875:Middle Aged