The International Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations
BackgroundHereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is a genotypically heterogeneous disorder with a poor prognosis. There is limited literature describing the variants responsible for