{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:18:04Z","timestamp":1784593084789,"version":"3.55.0"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T00:00:00Z","timestamp":1540512000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>\n                    In many children with short stature, the etiology of the decreased linear growth remains unknown. We sought to identify the underlying genetic etiology in a patient with short stature, irregular growth plates of the proximal phalanges, developmental delay, and mildly dysmorphic facial features. Exome sequencing identified a de novo, heterozygous, nonsense mutation (c.1606C&gt;T:p.R536X) in\n                    <jats:italic>QRICH1<\/jats:italic>\n                    . In vitro studies confirmed that the mutation impaired expression of the QRICH1 protein. SiRNA\u2010mediated knockdown of\n                    <jats:italic>Qrich1<\/jats:italic>\n                    in primary mouse epiphyseal chondrocytes caused downregulation of gene expression associated with hypertrophic differentiation. We then identified an unrelated individual with another heterozygous de novo nonsense mutation in\n                    <jats:italic>QRICH1<\/jats:italic>\n                    who had a similar phenotype. A recently published study identified\n                    <jats:italic>QRICH1<\/jats:italic>\n                    mutations in three patients with developmental delay, one of whom had short stature. Our findings indicate that\n                    <jats:italic>QRICH1<\/jats:italic>\n                    mutations cause not only developmental delay but also a chondrodysplasia characterized by diminished linear growth and abnormal growth plate morphology due to impaired growth plate chondrocyte hypertrophic differentiation.\n                  <\/jats:p>","DOI":"10.1111\/cge.13457","type":"journal-article","created":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T09:39:27Z","timestamp":1538732367000},"page":"160-164","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<i>QRICH1<\/i>\n                    mutations cause a chondrodysplasia with developmental delay"],"prefix":"10.1111","volume":"95","author":[{"given":"Julian C.","family":"Lui","sequence":"first","affiliation":[{"name":"Section on Growth and Development Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youn Hee","family":"Jee","sequence":"additional","affiliation":[{"name":"Section on Growth and Development Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Lee","sequence":"additional","affiliation":[{"name":"Section on Growth and Development Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanna","family":"Yue","sequence":"additional","affiliation":[{"name":"Section on Growth and Development Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Wagner","sequence":"additional","affiliation":[{"name":"Section on Growth and Development Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deirdre E.","family":"Donnelly","sequence":"additional","affiliation":[{"name":"Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust Belfast City Hospital  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen S.","family":"Vogt","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics Walter Reed National Military Medical Center  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Baron","sequence":"additional","affiliation":[{"name":"Section on Growth and Development Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health  Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2015.165"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13096"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12887"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-3288"}],"container-title":["Clinical 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