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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 |
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Title: |
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 |
Author: |
Van Gucht, Ilse Meester, Josephina A.N. Bento, Jotte Rodrigues Bastiaansen, Maaike Bastianen, Jarl Luyckx, Ilse Van Den Heuvel, Lotte Neutel, Cédric H.G. Guns, Pieter-Jan Vermont, Mandy Fransen, Erik Perik, Melanie H.A.M. Velchev, Joe Davis Alaerts, Maaike Schepers, Dorien Peeters, Silke Pintelon, Isabel Almesned, Abdulrahman Ferla, Matteo P. Taylor, Jenny C. Dallosso, Anthony R. Williams, Maggie Evans, Julie Rosenfeld, Jill A. Sluysmans, Thierry Rodrigues, Desiderio Chikermane, Ashish Bharmappanavara, Gangadhara Vijayakumar, Kayal Mottaghi Moghaddam Shahri, Hassan Hashemi, Narges Torbati, Paria Najarzadeh Toosi, Mehran B. Al-Hassnan, Zuhair N. Vogt, Julie Revencu, Nicole Maystadt, Isabelle Miller, Erin M. Weaver, K. Nicole Begtrup, Amber Houlden, Henry Murphy, David Maroofian, Reza Pagnamenta, Alistair T. Van Laer, Lut Loeys, Bart L. Verstraeten, Aline |
Appeared in: |
The American journal of human genetics |
Paging: |
Volume 108 () nr. 6 pages 1115-1125 |
Year: |
2021 |
Contents: |
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Publisher: |
American Society of Human Genetics |
Source file: |
Elektronische Wetenschappelijke Tijdschriften |
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