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Research Article
Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.
  1. B B Scott,
  2. J P Miller,
  3. M S Losowsky

    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.

    https://doi.org/10.1136/gut.20.2.163

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