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  • Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants

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Phenotypes
Short report
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants

Authors

  1. Correspondence to Dr Alexandre Guilhem, Service de Génétique, Hospices Civils de Lyon, Bron 69002, France; alexandre.guilhem{at}chu-lyon.fr
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Citation

Guilhem A, Dupuis-Girod S, Espitia O, et al
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
Journal of Medical Genetics 2023;60:905-909.

Publication history

  • Received December 9, 2022
  • Accepted January 30, 2023
  • First published February 22, 2023.
Online issue publication 
October 18, 2023

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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.