Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

BACKGROUND: Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central ner...

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Détails bibliographiques
Publié dans:Pediatr Neurol
Auteurs principaux: Caglayan, Ahmet Okay, Baranoski, Jacob F., Aktar, Fesih, Han, Wengi, Tuysuz, Beyhan, Guzel, Aslan, Guclu, Bulent, Kaymakcalan, Hande, Aktekin, Berrin, Akgumus, Gozde Tugce, Murray, Phillip B., Omay, E. Zeynep Erson, Caglar, Caner, Bakircioglu, Mehmet, Sakalar, Yildirim Bayezit, Guzel, Ebru, Demir, Nihat, Tuncer, Oguz, Senturk, Senem, Ekici, Baris, Minja, Frank J., Šestan, Nenad, Yasuno, Katsuhito, Bilguvar, Kaya, Caksen, Huseyin, Gunel, Murat
Format: Artigo
Langue:Inglês
Publié: 2014
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5056964/
https://ncbi.nlm.nih.gov/pubmed/25456301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2014.08.025
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