Article
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
American journal of human genetics - 7 Aug 2014
Aldinger Kimberly A, Mosca Stephen J, Tétreault Martine, Dempsey Jennifer C, Ishak Gisele E, Hartley Taila, Phelps Ian G, Lamont Ryan E, O'Day Diana R, Basel Donald, Gripp Karen W, Baker Laura, Stephan Mark J, Bernier Francois P, Boycott Kym M, Majewski Jacek, Parboosingh Jillian S, Innes A Micheil, Doherty Dan
Abstract excerpt
Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination with cobblestone cortex and congenital muscular dystrophy in individuals with dystroglycanopathies. More recently, CDC was reported in seven children without neuromuscular involvement (Poretti-Boltshauser syndrome). Using a combination of homozygosity mapping and whole-exome sequencing, we identified biallelic mutations in...
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