Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India ‐ implications on diagnosis, prognosis and prenatal testing

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Source: Journal of the European Academy of Dermatology and Venereology - March 6, 2018 Category: Dermatology Authors: Rahul Mahajan, Shamsudheen Karuthedath Vellarikkal, Sanjeev Handa, Ankit Verma, Rijith Jayarajan, Anoop Kumar, Dipankar De, Jaswinder Kaur, Inusha Panigrahi, Vineeth VSl, Sridhar Sivasubbu, Vinod Scaria Tags: Letter to Editor Source Type: research