{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T01:23:51Z","timestamp":1771464231088,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T00:00:00Z","timestamp":1718323200000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title><jats:p>We report a patient with nonimmune fetal hydrops and multiple pathologic fractures. RNA analysis revealed a novel <jats:italic>PIEZO1<\/jats:italic> variant. This report is the first to elucidate PIEZO1's role as a critical regulator of bone mass and strength.<\/jats:p>","DOI":"10.1002\/ccr3.9082","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T07:46:07Z","timestamp":1718351167000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous <scp><i>PIEZO1<\/i><\/scp> variant"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0199-4548","authenticated-orcid":false,"given":"Elizabeth H.","family":"Ketchum","sequence":"first","affiliation":[{"name":"Uniformed Services University  Bethesda Maryland USA"},{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles L.","family":"Groomes","sequence":"additional","affiliation":[{"name":"Uniformed Services University  Bethesda Maryland USA"},{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis N.","family":"Ghersi","sequence":"additional","affiliation":[{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian B.","family":"Graziose","sequence":"additional","affiliation":[{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharen C.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sidney E.","family":"Zven","sequence":"additional","affiliation":[{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca L.","family":"Hicks","sequence":"additional","affiliation":[{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Langley","sequence":"additional","affiliation":[{"name":"MNG Laboratories A Labcorp Company  Burlington North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Michael A.","family":"Reott","sequence":"additional","affiliation":[{"name":"MNG Laboratories A Labcorp Company  Burlington North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John P.","family":"Schacht","sequence":"additional","affiliation":[{"name":"Uniformed Services University  Bethesda Maryland USA"},{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth V.","family":"Schulz","sequence":"additional","affiliation":[{"name":"Uniformed Services University  Bethesda Maryland USA"},{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerri","family":"Curtis","sequence":"additional","affiliation":[{"name":"Uniformed Services University  Bethesda Maryland USA"},{"name":"Walter Reed National Military Medical Center  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,14]]},"reference":[{"key":"e_1_2_14_2_1","unstructured":"Piezo1 piezo type mechanosensitive ion channel component 1 [homo sapiens (human)]\u2014gene\u2014NCBI. National Center for Biotechnology Information. Accessed December 23 2021.https:\/\/www.ncbi.nlm.nih.gov\/gene\/9780"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.00258"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13701"},{"key":"e_1_2_14_5_1","volume-title":"Online Mendelian Inheritance in Man, OMIM","author":"Reilly D","year":"2007"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1113\/jp275718"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.7554\/elife.47454"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0302-x"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-14146-6"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.9082","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T06:46:06Z","timestamp":1720680366000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.9082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/ccr3.9082"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.9082","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"2023-06-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e9082"}}