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Case Reports
. 1979 Feb;20(2):163-8.
doi: 10.1136/gut.20.2.163.

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome

B B Scott, J P Miller, M S Losowsky
Case Reports

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome

B B Scott et al. Gut. 1979 Feb.

Abstract

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.

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