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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Ilse Van Gucht, Josephina Meester, Jotte Rodrigues Bento, Maaike Bastiaansen, Jarl Bastianen, Ilse Luyckx, Lotte Van Den Heuvel, Cédric Neutel, Pieter‐Jan Guns, Mandy Vermont, Erik Fransén, Melanie Perik, Joe Davis Velchev, Maaike Alaerts, Dorien Schepers, Silke Peeters, Isabel Pintelon, Abdulrahman Almesned, Matteo P. Ferla, Jenny C. Taylor, Anthony R. Dallosso, Maggie Williams, Julie Evans, Jill A. Rosenfeld, Thierry Sluysmans, Desiderio Rodrigues, Ashish Chikermane, Gangadhara Bharmappanavara, Kayal Vijayakumar, Hassan Mottaghi Moghaddam Shahri, Narges Hashemi, Paria Najarzadeh Torbati, Mehran Beiraghi Toosi, Zuhair N. Al‐Hassnan, Julie Vogt, Nicole Revençu, Isabelle Maystadt, Erin M. Miller, K. Nicole Weaver, Amber Begtrup, Henry Houlden, David Murphy, Reza Maroofian, Alistair T. Pagnamenta, Lut Van Laer, Bart Loeys, Aline Verstraeten

2021The American Journal of Human Genetics20 citationsDOIOpen Access PDF

Topics & Concepts

BiologyHaploinsufficiencyPhenotypeThoracic aortic aneurysmDorsal aortaCell biologyGeneticsAortic aneurysmPathologyInternal medicineMedicineGeneAortaEmbryonic stem cellConnective tissue disorders researchNuclear Structure and FunctionCardiomyopathy and Myosin Studies
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 | Litcius