Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

NUR B., Gencpinar P., YÜZBAŞIOĞLU A., Emre S., MIHÇI E.

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.58, sa.4, ss.238-242, 2015 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58 Sayı: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.ejmg.2015.01.011
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.238-242
  • Anahtar Kelimeler: Chanarin-Dorfman syndrome, Ichthyosis, Jordan anomaly, ABHD5/CGI-58 gene, INVOLVEMENT, MUTATIONS, DISORDER, PATIENT, CGI-58
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.