Login / Signup

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Manuela PrioloCecilia ManciniSimone PizziLuigi ChiriattiFrancesca Clementina RadioViviana CordedduLetizia PintomalliCorrado MammìBruno DallapiccolaTartaglia Marco
Published in: Genes (2022)
haploinsufficiency, addressing proper care and surveillance.
Keyphrases
  • copy number
  • case report
  • healthcare
  • palliative care
  • public health
  • genome wide
  • single cell
  • quality improvement
  • dna methylation
  • pain management
  • gene expression