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Identification of a novel microdeletion causative of Nance-Horan syndrome.

Mariana Lopez MartinolichHope NorthrupPedro ManciasPaul R HillmanKavya Indira RaoKate Mowrey
Published in: Molecular genetics & genomic medicine (2022)
Here, we report the second largest microdeletion causative of NHS which also encompasses the remaining four kindreds in hopes of offering a unique perspective at the clinical variability within NHS, investigate genes of interest, and expand the phenotype.
Keyphrases
  • patient safety
  • bioinformatics analysis
  • genome wide
  • case report
  • gene expression
  • quality improvement
  • genome wide identification