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.

J Eur Acad Dermatol Venereol. 2018 Dec;32(12):e433-e435. doi:10.1111/jdv.14909. Epub 2018 Aug 14

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