Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome

Congenit Anom (Kyoto). 2023 Mar;63(2):54-55. doi: 10.1111/cga.12506. Epub 2023 Jan 26.
No abstract available

MeSH terms

  • Cafe-au-Lait Spots* / complications
  • Cafe-au-Lait Spots* / genetics
  • Humans
  • Neurofibromatosis 1* / genetics
  • Sequence Deletion

Supplementary concepts

  • Legius syndrome