#LoeysDietzSyndrome Bone phenotypes

SMAD3 p.I67S->
⏬ SMAD3 protein stability & TGFβ signals
⏬ Cortical+trabecular width + Mineralization
Normal osteoid volume

One patient, transiliac bone biopsy, vs reference values

Dr. Wolfgang Högler lab Bone Rep 2022
https://www.sciencedirect.com/science/article/pii/S2352187222004375