Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Míreanna Comhchosúla

• Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome
  le: Møller, Lisbeth Birk, et al.
  Foilsithe: (2000)
• A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease
  le: Dagenais, Susan L., et al.
  Foilsithe: (2001)
• Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15
  le: Møller, Lisbeth Birk, et al.
  Foilsithe: (2021)
• Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.
  le: Das, S, et al.
  Foilsithe: (1995)
• Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
  le: Donsante, Anthony, et al.
  Foilsithe: (2007)