Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

@inproceedings{Meester2016LossoffunctionMI,
  title={Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections},
  author={Josephina A N Meester and Geert Vandeweyer and Isabel Pintelon and Martin Lammens and Lana Van Hoorick and Simon De Belder and Kathryn Waitzman and L. Tarleton Young and Larry W Markham and Julie Vogt and Julie Richer and Luc M Beauchesne and Sheila Unger and Andrea Superti-Furga and Milan Prsa and Rami Dhillon and Edwin Reyniers and Harry C Dietz and Wim Wuyts and Geert R. Mortier and Aline Verstraeten and Lut Van Laer and Bart Loeys},
  booktitle={Genetics in Medicine},
  year={2016}
}
Purpose:Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families.Methods:We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 6 times over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 10 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 40 references

Similar Papers

Loading similar papers…