Associated Papers
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P et al.
Journal of Medical Genetics, 2024
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
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