ISSN 1662-4009 (online)

ey0019.5-14 | Translational highlights | ESPEYB19

5.14. Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome

L Sedes , E Wondimu , B Crockett , J Hansen , A Cantalupo , K Asano , R Iyengar , D.B Rifkin , S Smaldone , F Ramirez

Hum Mol Genet ddac107 (2022)Abstract: https://pubmed.ncbi.nlm.nih.gov/35567544/In Brief: Disproportionate tall stature represents a hallmark feature of Marfan syndrome, although specific mechanisms underlying linear bone overgrowth are unclear. This study used an ex vivo model system to identify dysregulation of TGFβ-binding proteins in the outer perichondrium as causative for the bon...