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Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, Parboosingh JS, Innes AM, Doherty D. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet. 2014 Aug 07; 95(2):227-34.

View in: PubMed