Literature DB >> 444432

A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration.

P J Dykes, R Marks, P S Harper.   

Abstract

Two brothers are described with ichthyosis, hepatosplenomegaly and signs of cerebellar degeneration. The ichthyosis was similar to autosomal dominant ichthyosis both clinically and biochemically. No metabolic abnormality has yet been identified to account for this previously undescribed triad of abnormalities.

Entities:  

Mesh:

Year:  1979        PMID: 444432     DOI: 10.1111/j.1365-2133.1979.tb05585.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  1 in total

1.  Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.

Authors:  P S Harper; R Marks; P J Dykes; I D Young
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.