Publications by authors named "Reidunn C J Bekkeheien"

Article Synopsis
  • Knobloch syndrome (KNO) is an autosomal recessive disorder marked by severe nearsightedness, retinal issues, and congenital encephalocele, linked to mutations in the COL18A1 gene.
  • Two unrelated families from Hungary and New Zealand exhibited different mutations in COL18A1, confirming its role in KNO's development while showing genetic diversity.
  • The Hungarian family's mutations included a frameshift and a missense mutation affecting endostatin, which likely contributes to the disease, while the New Zealand family indicated the presence of a second KNO locus, termed KNO2, not related to COL15A1.
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