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

Pearson, Madeline; McGowan, Ruth; Greene, Philip; Lam, Wayne; Miedzybrodzka, Zofia; Berg, Jonathan

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

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Pearson_etal_ESHG_Outcomes_of_Patients_VOR.pdf (598.75 KB)

Date

2024-06

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Pearson, 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-w