ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

  1. M Eyries1,2,3,
  2. F Coulet1,2,3,
  3. B Girerd4,
  4. D Montani4,
  5. M Humbert4,
  6. P Lacombe5,
  7. T Chinet6,
  8. L Gouya7,
  9. J Roume7,
  10. MM Axford8,9,
  11. CE Pearson8,9,
  12. F Soubrier1,2,3,*

Article first published online: 13 JUL 2011

DOI: 10.1111/j.1399-0004.2011.01727.x

Issue

Clinical Genetics

Clinical Genetics

Volume 82, Issue 2, pages 173–179, August 2012

Additional Information

How to Cite

Eyries, M., Coulet, F., Girerd, B., Montani, D., Humbert, M., Lacombe, P., Chinet, T., Gouya, L., Roume, J., Axford, M., Pearson, C. and Soubrier, F. (2012), ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. Clinical Genetics, 82: 173–179. doi: 10.1111/j.1399-0004.2011.01727.x

Author Information

  1. 1

    Oncogenetics and Angiogenetics Laboratory, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, France

  2. 2

    UPMC Univ Paris 06, UMR_S 956, F-75005, Paris, France

  3. 3

    INSERM UMR_S 956, Faculté de médecine Pitié-Salpêtrière, F-75013, Paris, France

  4. 4

    National Reference Centre for Severe Pulmonary Hypertension, Department of Pulmonary and Critical Care Medicine, Hôpital Antoine Béclère, Université Paris-Sud, Assistance Publique Hôpitaux de Paris, Clamart, France

  5. 5

    Radiology Department

  6. 6

    Pneumology Department

  7. 7

    Genetics Department, MRO Center, Hôpital Ambroise Paré, Paris, France

  8. 8

    Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada

  9. 9

    Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

*Florent Soubrier, Laboratoire d’Oncogénétique et d’Angiogénétique Moléculaire, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France. Tel.: 0033142177664; fax: 0033142177618; e-mail: florent.soubrier@psl.aphp.fr

Publication History

  1. Issue published online: 10 JUL 2012
  2. Article first published online: 13 JUL 2011
  3. Accepted manuscript online: 8 JUN 2011 01:50PM EST
  4. Received 12 April 2011, revised and accepted for publication 3 June 2011

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