A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
人类输入蛋白β相关疾病：由IPO8基因双等位基因功能缺失变异引起的综合征性胸主动脉瘤
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.04.019
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
