O’Driscoll MC et al. Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria.Am J Hum Genet. 2010;87(3):354-364. PMID: 20727516.
LeBlanc MA et al. A novel rearrangement of occludin causes brain calcification and renal dysfunction. Hum Genet. 2013;132(11):1223-1234. PMID: 23793442.
Aggarwal S, Bahal A, Dalal A. Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: report of a new mutation and review of literature. Eur J Med Genet. 2016;59(1):5-10. PMID: 26689621.
Abdel-Hamid MS et al. Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. J Hum Genet. 2017;62(5):553-559. PMID: 28386946.
Jenkinson EM et al. Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.Clin Genet. 2018;93(2):228-234. PMID: 28386946.
Ekinci F et al. A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction.Eur J Med Genet. 2020;63(8):103923. PMID: 32240828.
Oncu Oner T et al. OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.Epileptic Disord. 2021;23(6):843-853. PMID: 34704946.
OCLN