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Aggarwal, Shagun and Das Bhowmik, A. and Tandon, A. and Dalal, Ashwin (2018) Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus. European Journal of Medical Genetics, 61 (7). pp. 399-402. ISSN 1769-7212

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We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. The de-novo status of these variants is not confirmed as parental genotypes could not be ascertained. A comparison of the post-mortem findings of the fetus with reported phenotypes of Beals and Marfan syndromes indicated overlapping clinical features suggestive of a blended phenotype.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 07 Mar 2018 10:04
Last Modified: 01 Jan 2019 12:26
URI: http://cdfd.sciencecentral.in/id/eprint/831

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