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 L. 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 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

PubMed: MeSH publication types

  • Case Reports

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 L.

In: JAAD Case Reports, Vol. 5, No. 7, 07.2019, p. 576-579.

Research output: Contribution to journalArticle

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keywords = "KRT5, autosomal recessive epidermolysis bullosa simplex, epidermolysis bullosa simplex, keratin, keratin 5, recessive epidermolysis bullosa simplex",
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