Das Bhowmik, A. and Dalal, Ashwin and Matta, D. and Rukmini, M.K. and Kanikannan, M.A. and Aggarwal, Shagun (2016) Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing. Neuromuscular Disorders, 26 (11). pp. 809-814. ISSN 0960-8966