Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism
Author:
Funder
DST | Science and Engineering Research Board
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-018-0541-9.pdf
Reference10 articles.
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2. Redies C, Hertel N, Hubner CA. Cadherins and neuropsychiatric disorders. Brain Res. 2012;1470:130–44.
3. Suzuki-Muromoto S, Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, et al. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. J Hum Genet. 2018;63:749–53.
4. Das Bhowmik A, Dalal A. Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome. Gene. 2015;572:303–6.
5. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575–6.
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