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Active filtersEntity: Hereditary haemorrhagic telangiectasia (HHT) ×

Hereditary haemorrhagic telangiectasia (HHT)

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Hereditary haemorrhagic telangiectasia (HHT)1

Articles mentioning Hereditary haemorrhagic telangiectasia (HHT)

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Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort

jmedgenet · abstract · 2025-11-21 · 1 matching annotations

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juvenile polyposis syndrome (JPS)Hereditary haemorrhagic telangiectasia (HHT)clinical genetic laboratories

…Background Hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) can be caused by SMAD4 pathogenic variants. SMAD4 is a common t…

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Hereditary haemorrhagic telangiectasia (HHT)

Articles mentioning Hereditary haemorrhagic telangiectasia (HHT)

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort