Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation


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Nur B., Gencpinar P., Yüzbaşıoğlu A., Emre S. D., Mıhçı E.

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.58, no.4, pp.238-242, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.1016/j.ejmg.2015.01.011
  • Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.238-242
  • Keywords: Chanarin-Dorfman syndrome, Ichthyosis, Jordan anomaly, ABHD5/CGI-58 gene, INVOLVEMENT, MUTATIONS, DISORDER, PATIENT, CGI-58
  • Akdeniz University Affiliated: Yes

Abstract

Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervous system due to a multisystemic accumulation of neutral lipids in various types of cells. Less than 100 affected individuals have been reported worldwide, the majority from the Mediterranean and Middle-East countries, especially Turkey.