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Aggarwal, Shagun and Bahal, Ashish and Dalal, Ashwin (2016) Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. European Journal of Medical Genetics, 59 (1). pp. 5-10. ISSN 1769-7212

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Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and known to result from biallelic mutations in the Occludin(OCLN) gene. This is report of a family of Indian origin with two affected sibs and segregation of a homozygous novel OCLN mutation in the exon 3(NG_028291.1(OCLN_v001):c.252delC). A literature review suggests that renal dysfunction may be an unrecognized phenotypic manifestation of OCLN mutations and monitoring for the same should form part of the clinical care of these individuals.

Item Type: Article
Uncontrolled Keywords: Occludin; Pseudo TORCH syndrome
Depositing User: Unnamed user with email alok@urdip.res.in
Date Deposited: 17 Dec 2015 05:55
Last Modified: 28 Apr 2016 04:52
URI: http://cdfd.sciencecentral.in/id/eprint/6

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