Elizabeth H. Ketchum, Charles L. Groomes, Alexis N. Ghersi, Brian B. Graziose, Sharen C. Wilson, Sidney E. Zven, Rebecca L. Hicks, William A. Langley, Michael A. Reott Jr,. John P. Schacht, Elizabeth V. Schulz, Jerri Curtis
Uniformed Services University. Walter Reed National Military Medical Center. MNG Laboratories.
United States
Clinical Case Reports
Clin Case Rep 2024; 12:
DOI: 10.1002/ccr3.9082
Abstract
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.
Category
Pulmonary Lymphatic Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes