Article
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
Clinical genetics - 1 Feb 2018
Jenkinson E M, Livingston J H, O'Driscoll M C, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice G I, Crow Y J
Abstract excerpt
Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll et al reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterized by early onset seizures, progressive...
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