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

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dc.contributor.authorPearson, Madeline
dc.contributor.authorMcGowan, Ruth
dc.contributor.authorGreene, Philip
dc.contributor.authorLam, Wayne
dc.contributor.authorMiedzybrodzka, Zofia
dc.contributor.authorBerg, Jonathan
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.date.accessioned2024-08-09T12:51:01Z
dc.date.available2024-08-09T12:51:01Z
dc.date.issued2024-06
dc.description.statusPeer revieweden
dc.format.extent5
dc.format.extent613115
dc.identifier291805984
dc.identifier0c509a51-cd21-4bcc-928c-d6e1cf2037c2
dc.identifier85190609038
dc.identifier38627541
dc.identifier38627541
dc.identifier.citationPearson, 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-wen
dc.identifier.doi10.1038/s41431-024-01607-w
dc.identifier.iss6en
dc.identifier.issn1018-4813
dc.identifier.otherORCID: /0000-0003-2890-8136/work/175113356
dc.identifier.urihttps://hdl.handle.net/2164/24002
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85190609038&partnerID=8YFLogxKen
dc.identifier.vol32en
dc.language.isoeng
dc.relation.ispartofEuropean Journal of Human Geneticsen
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectR Medicine (General)en
dc.subjectGeneticsen
dc.subjectGenetics(clinical)en
dc.subject.lccR1en
dc.titleOutcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohorten
dc.typeJournal articleen

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