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Clinics and genetic background of hereditary gingival fibromatosis.

Karolina StrzelecAgata DziedzicKatarzyna Łazarz-BartyzelAleksander M GrabiecEwa GutmajsterTomasz KaczmarzykPaweł PlakwiczKatarzyna Gawron
Published in: Orphanet journal of rare diseases (2021)
The analysis of clinical reports as well as translational genetic studies published since the late'90s indicate the clinical and genetic heterogeneity of non-syndromic HGF and point out the importance of genetic studies and bioinformatics of more numerous unrelated families to identify novel pathogenic variants potentially inducing HGF. This strategy will help to unravel the molecular  mechanisms as well as uncover specific targets for novel and less invasive therapies of this rare, orphan condition.
Keyphrases
  • copy number
  • genome wide
  • primary care
  • emergency department
  • gene expression
  • dna methylation
  • case control
  • intellectual disability
  • autism spectrum disorder
  • drug induced