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Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa in India

posted Feb 21, 2017, 7:52 AM by Vinod Scaria
Highlights
  • Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogenous group of genetic skin disorders.•
  • We show the utility of WES in understanding the phenotype and genotype spectrum in four Indian JEB families.•
  • Computational modeling studies have been used to understand the probable molecular consequence of a missense mutation on the structure-function relationship of lamininβ3 protein.•
  • This is the first report documenting the phenotype-genotype correlations of JEB patients from India.
Citation:
Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Ray SB, Dinda AK, Kabra M, Kaur P, Sharma VK, Sethuraman G
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
J Dermatol Sci (2017) in press.

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