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Patil, S.J. and Das Bhowmik, A. and Bhat, V. and Venugopal, S.V. and Rashmi, V. and Dalal, Ashwin (2018) Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American Journal of Medical Genetics Part A, 176 (5). pp. 1200-1206. ISSN 1552-4825

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Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 18 May 2018 11:38
Last Modified: 18 May 2018 20:19
URI: http://cdfd.sciencecentral.in/id/eprint/845

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