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Nowadays, molecular analysis, especially for doubtful patients, should rely on next generation sequencing (NGS) technologies, including multigene panels containing at least all EDS-associated genes and/or panels comprising genes of the major HCTDs in differential diagnosis and/or a custom phenotype-focused whole exome analysis [1]

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SMCHD works closely with key partners and community members to reduce tobacco use, exposure to secondhand smoke, and vaping through the Chronic Disease action team of the Healthy St