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