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Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant.
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; Curtis, Jerri.
Affiliation
  • Ketchum EH; Uniformed Services University Bethesda Maryland USA.
  • Groomes CL; Walter Reed National Military Medical Center Bethesda Maryland USA.
  • Ghersi AN; Uniformed Services University Bethesda Maryland USA.
  • Graziose BB; Walter Reed National Military Medical Center Bethesda Maryland USA.
  • Wilson SC; Walter Reed National Military Medical Center Bethesda Maryland USA.
  • Zven SE; Walter Reed National Military Medical Center Bethesda Maryland USA.
  • Hicks RL; Walter Reed National Military Medical Center Bethesda Maryland USA.
  • Langley WA; Walter Reed National Military Medical Center Bethesda Maryland USA.
  • Reott MA; Walter Reed National Military Medical Center Bethesda Maryland USA.
  • Schacht JP; MNG Laboratories A Labcorp Company Burlington North Carolina USA.
  • Schulz EV; MNG Laboratories A Labcorp Company Burlington North Carolina USA.
  • Curtis J; Uniformed Services University Bethesda Maryland USA.
Clin Case Rep ; 12(6): e9082, 2024 Jun.
Article in En | MEDLINE | ID: mdl-38883227
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Case Rep Year: 2024 Document type: Article
Fulltext
Add to My VHL
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XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Case Rep Year: 2024 Document type: Article