Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.
نویسندگان
چکیده
منابع مشابه
Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.
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.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1980
ISSN: 1468-6244
DOI: 10.1136/jmg.17.3.212