A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex

Rebecca K. Tryon, Jakub Tolar, Sarah M. Preusser, Megan J Riddle, Douglas R. Keene, Matthew Bower, Bharat Thyagarajan, Christen Ebens

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)576-579
Number of pages4
JournalJAAD Case Reports
Volume5
Issue number7
DOIs
StatePublished - Jul 1 2019

Fingerprint

Epidermolysis Bullosa Simplex
Keratin-5
Keratins
Genes
Autosomal Recessive Epidermolysis Bullosa Simplex

Keywords

  • KRT5
  • autosomal recessive epidermolysis bullosa simplex
  • epidermolysis bullosa simplex
  • keratin
  • keratin 5
  • recessive epidermolysis bullosa simplex

Cite this

A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex. / Tryon, Rebecca K.; Tolar, Jakub; Preusser, Sarah M.; Riddle, Megan J; Keene, Douglas R.; Bower, Matthew; Thyagarajan, Bharat; Ebens, Christen.

In: JAAD Case Reports, Vol. 5, No. 7, 01.07.2019, p. 576-579.

Research output: Contribution to journalArticle

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AU - Keene, Douglas R.

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AU - Thyagarajan, Bharat

AU - Ebens, Christen

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