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Outcomes of Patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Caused by Pathogenic SMAD4 Variants in a Pan-Scotland Cohort

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

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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关键词
Hereditary Hemorrhagic Telangiectasia,SMAD4 Mutations
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