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Patientforløbsbeskrivelse_NPS_version_2022_06.01 Forskning ( Egen /samarbejdspartnere) Oct;28(10):1414-1421. PMID: 32457516. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608088/ Price A et al. Nail-patella syndrome: clinical clues for making the diagnosis. Cutis 2018 Feb;101(2):126-129. PMID: 29554154. https://www.mdedge.com/dermatology/article/158021/hair- nails/nail-patella-syndrome-clinical-clues-making-diagnosis Bongers et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005 Aug;13(8):935-46. PMID: 15928687. https://www.nature.com/articles/5201446 Lichter PR et al. Cosegregation of open-angle glaucoma and the nail- patella syndrome. Am J Ophthamol 1997 Oct;124(4):506-15. PMID: 9323941. https://www.sciencedirect.com/science/article/abs Geerts-Crabbé et al. Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients’ perspectives. J Genet Couns 2019, Oct;28(5):1011-1020. PMID 31313463. https://onlinelibrary.wiley.com/doi/full/10.1002/jgc4.1153 Beskrivelse af eventuelt nationalt samarbejde 4


