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Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation.

Seonghwan KimHyunchul JeongJung Min KoOhsang KwonJoo Youn Oh
Published in: Cornea (2023)
In pediatric patients with recurrent vascularizing keratitis and diffuse scalp alopecia starting early in life, HMD should be considered, and genetic tests and collaboration with dermatologists and pediatricians on the diagnosis should be provided.
Keyphrases
  • genome wide
  • low grade
  • copy number
  • skin cancer
  • high grade