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.
