{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:45Z","timestamp":1786976805080,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,5,11]],"date-time":"2010-05-11T00:00:00Z","timestamp":1273536000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in\n                    <jats:italic>TRPV4<\/jats:italic>\n                    . This family comprises, in order of increasing severity, dominant brachyolmia, spondylo\u2010metaphyseal dysplasia Kozlowski type, and metatropic dysplasia. We tested the hypothesis that a further condition, Spondylo\u2010epiphyseal dysplasia (SED), Maroteaux type (MIM 184095; also known as pseudo\u2010Morquio syndrome type 2), could be caused by\n                    <jats:italic>TRPV4<\/jats:italic>\n                    mutations. We analyzed six individuals with Maroteaux type SED, including three who had previously been reported. All six patients were found to have heterozygous\n                    <jats:italic>TRPV4<\/jats:italic>\n                    mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia. In addition, we tested one individual with a distinct rare disorder, parastremmatic dysplasia (MIM 168400). This patient had a common, recurrent mutation seen in several patients with Kozlowski type spondylo\u2010metaphyseal dysplasia. We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that\n                    <jats:italic>TRPV4<\/jats:italic>\n                    mutations show considerable variability in phenotypic expression resulting in distinct clinical\u2010radiographic phenotypes. \u00a9 2010 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.33414","type":"journal-article","created":{"date-parts":[[2010,5,11]],"date-time":"2010-05-11T16:48:29Z","timestamp":1273596509000},"page":"1443-1449","source":"Crossref","is-referenced-by-count":67,"title":["Spondylo\u2010epiphyseal dysplasia, Maroteaux type (pseudo\u2010Morquio syndrome type 2), and parastremmatic dysplasia are caused by\n                    <i>TRPV4<\/i>\n                    mutations"],"prefix":"10.1002","volume":"152A","author":[{"given":"Gen","family":"Nishimura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehart","family":"Lausch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Megarban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kitoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ok 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