The first human importin-beta-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Van Gucht I., Meester JAN., Bento JR., Bastiaansen M., Bastianen J., Luyckx I., Van Den Heuvel L., Neutel CHG., Guns P-J., Vermont M., Fransen E., Perik MHAM., Velchev JD., Alaerts M., Schepers D., Peeters S., Pintelon I., Almesned A., Ferla MP., Taylor JC., Dallosso AR., Williams M., Evans J., Rosenfeld JA., Sluysmans T., Rodrigues D., Chikermane A., Bharmappanavara G., Vijayakumar K., Maroofian R., Al-Hassnan ZN., Vogt J., Revencu N., Maystadt I., Pagnamenta AT., Van Laer L., Loeys B., Verstraeten A.

Type

Conference paper

Publication Date

04/2022

Volume

30

Pages

5 - 6

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