Article
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
Journal of dermatological science - 1 Apr 2017
Yenamandra Vamsi K, Vellarikkal Shamsudheen K, Kumar Manoj, Chowdhury Madhumita R, Jayarajan Rijith, Verma Ankit, Scaria Vinod, Sivasubbu Sridhar, Ray Subrata B, Dinda Amit K, Kabra Madhulika, Kaur Punit, Sharma Vinod K, Sethuraman Gomathy
Abstract excerpt
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in...
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