Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

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Hızal M., Yeke B., YILDIZ Y., Öztürk A., Gürbüz B. B., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.3, ss.474-478, 2020 (SCI-Expanded, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.03.015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.474-478
  • Anahtar Kelimeler: Vici syndrome, autophagy, oculocutaneous albinism, EPG5 mutation, IMMUNODEFICIENCY
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.