CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

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Del Giudice E., Macca M., Imperati F., D'Amico A., Parent P., Pasquier L., ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.9, 2014 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/1750-1172-9-74
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: OFD1, Ciliopathies, Neuroimaging, Neurodevelopmental phenotype, FACIAL-DIGITAL SYNDROME, NERVOUS-SYSTEM MALFORMATIONS, JOUBERT SYNDROME, HIPPOCAMPAL NEUROGENESIS, PHENOTYPIC SPECTRUM, SYNDROME TYPE-1, HUMAN-DISEASE, CILIA, GENE, BRAIN
  • Marmara Üniversitesi Adresli: Evet

Özet

Background: Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder.