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

المساهمون: Genomics England Res Consortium

المصدر: The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MMP2, Loss of Heterozygosity, Importin, 030204 cardiovascular system & hematology, Biology, Importin 8, Loeys–Dietz syndrome, Thoracic aortic aneurysm, Mice, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Loss of Function Mutation, Transforming Growth Factor beta, Report, TGF beta signaling pathway, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), Mice, Knockout, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Aortic Aneurysm, Thoracic, Syndrome, beta Karyopherins, medicine.disease, Pedigree, Cell biology, Mice, Inbred C57BL, CTGF, Phenotype, 030104 developmental biology, Child, Preschool, Knockout mouse, Female, Human medicine, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24e6c0679dae811ef67aedbd6e7ffa5
https://doi.org/10.1016/j.ajhg.2021.04.019