Associated Papers
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P et al.
American Journal of Medical Genetics. Part A, 2023
36380655 (PubMed )
Supplement: AJMG-191-479-s002.xlsx › Blad1
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A et al.
Clinical Genetics, 2021
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Vatti L et al.
American Journal of Medical Genetics. Part A, 2017
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