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

Autor: Wengi Han, Katsuhito Yasuno, Bulent Guclu, Ahmet Okay Caglayan, Murat Gunel, Barış Ekici, Phillip B. Murray, Beyhan Tüysüz, Yildirim Bayezit Sakalar, Hüseyin Çaksen, Hande Kaymakçalan, Senem Senturk, Mehmet Bakırcıoğlu, Nihat Demir, Kaya Bilguvar, Fesih Aktar, Ebru Guzel, Caner Çağlar, Oğuz Tuncer, Gozde Tugce Akgumus, Jacob F Baranoski, Nenad Sestan, Frank J. Minja, Berrin Aktekin, Aslan Guzel, Emine Z. Erson-Omay

BACKGROUND: Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is cle

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