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Bhavani, G.S. and Shah, H. and Dalal, Ashwin and Shukla, A. and Danda, S. and Aggarwal, Shagun and Phadke, S.R. and Gupta, N. and Kabra, M. and Gowrishankar, K. and Gupta, A. and Bhat, M. and Puri, R.D. and Bijarnia-Mahay, S. and Nampoothiri, S. and Mohanasundaram, K.M. and Rajeswari, S. and Kulkarni, A.M. and Kulkarni, M.L. and Ranganath, P. and Radha Rama Devi, A. and Hariharan, S.V. and Girisha, K.M. (2015) Novel and recurrent mutations inWISP3and an atypical phenotype. American Journal of Medical Genetics Part A, 167 (10). pp. 2481-2484. ISSN 1552-4825

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Abstract

We present the mutations in the largest series of patients with PPD with a report on total 9 novel mutations and 17 mutations observed only in Indian population. We also illustrate atypical clinical features of the condition noted in one family

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 20 Jul 2015 07:09
Last Modified: 28 Nov 2015 18:10
URI: http://cdfd.sciencecentral.in/id/eprint/264

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