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Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

Josephina Meester, Silke Peeters, Lotte Van Den Heuvel, Geert Vandeweyer, Erik Fransén, Elizabeth Cappella, Harry C. Dietz, Geoffrey A. Forbus, Bruce D. Gelb, Elizabeth Goldmuntz, Arvind Hoskoppal, Andrew P. Landstrom, Teresa Lee, Seema Mital, Shaine A. Morris, Aaron Olson, Marjolijn Renard, Dan M. Roden, Michael Singh, Elif Seda Selamet Tierney, Justin T. Tretter, Sara L. Van Driest, Marcia Willing, Aline Verstraeten, Lut Van Laer, Ronald V. Lacro, Bart Loeys

2022Genetics in Medicine26 citationsDOIOpen Access PDF

Topics & Concepts

Marfan syndromeEctopia lentisPhenotypeMedicineFibrillinCohortHaploinsufficiencyGenotypeExonGeneticsInternal medicineGeneBioinformaticsBiologyConnective tissue disorders researchCongenital heart defects researchAortic Disease and Treatment Approaches
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort | Litcius