Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Reference4 articles.
1. Online Mendelian Inheritance in Man, OMIM®, Baltimore MD. Johns Hopkins University. OMIM Entry - # 267750 - Knobloch syndrome 1; KNO1. Available at: https://www.omim.org/entry/267750. Accessed on 20th August 2023.
2. Hull S, Arno G, Ku CA, et al. Molecular and clinical findings in patients with Knobloch syndrome. JAMA Ophthalmol. 2016;134:753–62.
3. Caglayan AO, Baranoski JF, Aktar F, et al. Brain malformations associated with Knobloch syndrome–review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol. 2014;51:806-13.e8.
4. Venkateshappa BM, Raju B, Rallo MS, et al. Knobloch syndrome, a rare cause of occipital encephalocele and seizures: a case report. Pediatr Neurosurg. 2021;56:274–8.