Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain-of-function A391E mutation in FGFR3 gene

J Dermatol. 2020 Dec;47(12):e451-e452. doi: 10.1111/1346-8138.15580. Epub 2020 Aug 29.
No abstract available

Publication types

  • Letter

MeSH terms

  • Acanthosis Nigricans* / diagnosis
  • Acanthosis Nigricans* / genetics
  • Craniofacial Dysostosis* / diagnosis
  • Craniofacial Dysostosis* / genetics
  • Gain of Function Mutation
  • Humans
  • Mutation
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

  • Crouzon Syndrome With Acanthosis Nigricans