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Start Over Author "Graziose, Brian" Topic dysplasia
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1. Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant.

Author

Ketchum, Elizabeth H., Groomes, Charles L., Ghersi, Alexis N., Graziose, Brian B., Wilson, Sharen C., Zven, Sidney E., Hicks, Rebecca L., Langley, William A., Reott, Michael A., Schacht, John P., Schulz, Elizabeth V., and Curtis, Jerri

Subjects
BONE diseases, DYSPLASIA, HYDROPS fetalis, NEWBORN infants, RNA analysis, RADIONUCLIDE imaging
Abstract

Key Clinical Message: 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. [ABSTRACT FROM AUTHOR]

Published
2024
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