Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort

Pearson, MadelineMcGowan, RuthGreene, PhilipLam, WayneMiedzybrodzka, ZofiaBerg, Jonathan2024-08-092024-08-092024-06Pearson, M, McGowan, R, Greene, P, Lam, W, Miedzybrodzka, Z & Berg, J 2024, 'Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort', European Journal of Human Genetics, vol. 32, no. 6, pp. 731-735. https://doi.org/10.1038/s41431-024-01607-w1018-4813ORCID: /0000-0003-2890-8136/work/175113356https://hdl.handle.net/2164/240025613115engSDG 3 - Good Health and Well-beingR Medicine (General)GeneticsGenetics(clinical)R1Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohortJournal article10.1038/s41431-024-01607-whttp://www.scopus.com/inward/record.url?scp=85190609038&partnerID=8YFLogxK326