Article
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2017
Meester Josephina A N, Vandeweyer Geert, Pintelon Isabel, Lammens Martin, Van Hoorick Lana, De Belder Simon, Waitzman Kathryn, Young Luciana, Markham Larry W, Vogt Julie, Richer Julie, Beauchesne Luc M, Unger Sheila, Superti-Furga Andrea, Prsa Milan, Dhillon Rami, Reyniers Edwin, Dietz Harry C, Wuyts Wim, Mortier Geert, Verstraeten Aline, Van Laer Lut, Loeys Bart L
Abstract excerpt
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...
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