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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 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub 2010 Aug 19.
Am J Hum Genet. 2010.
PMID: 20727516
Free PMC article.
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ.
Briggs TA, et al.
Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. doi: 10.1002/ajmg.a.32614.
Am J Med Genet A. 2008.
PMID: 19012351
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