Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.
نویسندگان
چکیده
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.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 3 شماره
صفحات -
تاریخ انتشار 1980