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Paper Details

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Genet Med
12
2022
C, DN, DN FBN1 variants, DN variants, Ectopia lentis, FBN1, FBN1 variant, FBN1 variants, MFS, Marfan syndrome, N, Patients, aortic root, cardiovascular, dominant, ectopia lentis, exon 25-33, exons 26 to 49, neonatal FBN1 region, patients, pediatric
Author NameAffiliation
Harry C DietzMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, The Johns Hopkins University, MD Howard Hughes Medical Institute
Bruce D GelbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Bruce D GelbMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Elizabeth GoldmuntzChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Seema MitalHospital for Sick Children, University of Toronto
Shaine A MorrisBaylor College of Medicine and Texas Children's Hospital
Dan M RodenVanderbilt University Medical Center
Sara L Van DriestVanderbilt University Medical Center
Ronald V LacroBoston Children's Hospital and Department of Pediatrics, Harvard Medical School
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Release 1.2