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Vineeth, V.S. and Das Bhowmik, A. and Balakrishnan, S. and Dalal, Ashwin and Aggarwal, Shagun (2019) Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. Journal of Human Genetics, 64 (1). pp. 183-189. ISSN 1434-5161

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We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to homozygous PCDH12 nonsense variations. cDNA studies showed >90% reduction in transcript levels in both patients, indicating nonsense-mediated decay and loss of function as the probable causative molecular mechanism of the phenotype.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 28 Dec 2018 07:21
Last Modified: 22 Jan 2019 05:30
URI: http://cdfd.sciencecentral.in/id/eprint/877

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