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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program; Huizing M, Toro C, Gahl WA, Gunay-Aygun M. Vilboux T, et al. Among authors: anderson sm. J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13. J Med Genet. 2016. PMID: 27095636 Free PMC article.
486 results