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Aggarwal, Shagun and Kar, A. and Bland, P. and Kelsell, D. and Dalal, Ashwin (2015) Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis. Gene, 556 (2). pp. 254-256. ISSN 1879-0038

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Abstract

Harequin ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene. We report two neonates of Indian origin with harlequin ichthyosis. The parents were retrospectively found to have novel mutations in ABCA12 gene after neonatal demise, which helped in providing prenatal diagnosis in subsequent pregnancies. Copyright © 2014 Elsevier B.V. All rights reserved.

Item Type: Article
Additional Information: Supplementary data to this article can be found online at http://dx.doi.org/10.1016/j.gene.2014.12.002
Uncontrolled Keywords: Harlequin ichthyosis ABCA12 mutations Molecular testing
Subjects: Genetics
Molecular Biology
Depositing User: Dr P Divakar
Date Deposited: 14 May 2015 11:06
Last Modified: 12 Oct 2015 08:57
URI: http://cdfd.sciencecentral.in/id/eprint/17

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