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

Journal of the European Academy of Dermatology and Venereology, EarlyView.

Source: Journal of the European Academy of Dermatology and Venereology - August 14, 2018 Category: Dermatology Authors: R. Mahajan , S.K. Vellarikkal , S. Handa , A. Verma , R. Jayarajan , A. Kumar , D. De , J. Kaur , I. Panigrahi , V.S. Vineeth , S. Sivasubbu , V. Scaria Source Type: research