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June 1, 2024Clinical Case ReportsOpen Access

Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant

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

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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.

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Cite This Study

Ketchum et al. (2024) studied this question.

synapsesocial.com/papers/68e671cdb6db6435875fc844 https://doi.org/10.1002/ccr3.9082

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