O37: Characterization of MyCode participants with pathogenic or likely pathogenic variants in ENG, ACVRL1, or SMAD4 associated with hereditary hemorrhagic telangiectasia*

Lignende værker

• O37: Characterization of MyCode participants with pathogenic or likely pathogenic variants in ENG, ACVRL1, or SMAD4 associated with hereditary hemorrhagic telangiectasia*
  af: Tyler Singer, et al.
  Udgivet: (2023-01-01)
• A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant
  af: Sawako Ochiai, et al.
  Udgivet: (2026-03-01)
• Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital
  af: Torbjörn Karlsson, et al.
  Udgivet: (2018-07-01)
• A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic Telangiectasia
  af: Mehmet Baysal, et al.
  Udgivet: (2021-08-01)
• P1632: HEREDITARY HEMORRHAGIC TELANGIECTASIA: A COMPREHENSIVE FAMILY STUDY AND A NEW PATHOGENIC VARIANT IN ACVRL1 GENE.
  af: Alba María Casado Prieto, et al.
  Udgivet: (2023-08-01)