Phenotypic characterisation of SMAD4 variant carriers
Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-GirodFemme-Mère-Enfants Hospital and Hospices Civils de Lyon. Hôpital E. Herriot. Université Claude Bernard Lyon 1. France Journal of Medical GeneticsJ Med Genet 2024; DOI: 10.1136/jmg-2023-109632 AbstractBackground: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known […]
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