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Research Article
Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.
  1. P S Harper,
  2. R Marks,
  3. P J Dykes,
  4. I D Young

    Abstract

    A sibship is described in which at least two brothers suffer from a unique disorder characterised by ichthyosis, hepatosplenomegaly, and late onset cerebellar ataxia. The clinical features and investigations are described. No metabolic abnormality has been found so far.

    https://doi.org/10.1136/jmg.17.3.212

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