1.
Clin Case Rep
; 12(6): e9082, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38883227
RESUMO
We report a patient with nonimmune fetal hydrops and multiple pathologic fractures. RNA analysis revealed a novel PIEZO1 variant. This report is the first to elucidate PIEZO1's role as a critical regulator of bone mass and strength.