Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris

Acta Derm Venereol. 2016 Nov 2;96(7):989-990. doi: 10.2340/00015555-2446.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • CARD Signaling Adaptor Proteins / genetics*
  • Guanylate Cyclase
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Male
  • Membrane Proteins
  • Mutation / genetics*
  • Pityriasis Rubra Pilaris / genetics*

Substances

  • CARD Signaling Adaptor Proteins
  • Membrane Proteins
  • CARD14 protein, human
  • Guanylate Cyclase