Robuta

https://www.cleverjournal.org/thymine-cytosine-missense-mutation-at-nucleotide-3538-in-fibrillin-1-gene-in-marfan-syndrome-a-case-report-of-an-aggressive-phenotype/
missense mutationthyminecytosinenucleotidefibrillin
https://pubmed.ncbi.nlm.nih.gov/11508439/?dopt=Abstract
Although SSc fibroblasts assemble microfibrils, these microfibrils are unstable, suggesting that an inherent defect of fibrillin 1-containing microfibrils may...
dermal fibroblastabnormalitiesfibrillincontainingmicrofibrils