{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T10:40:15Z","timestamp":1694169615201},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T00:00:00Z","timestamp":1579824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain\u2010of\u2010function mutations in the parathyroid hormone receptor 1 gene, <jats:italic>PTH1R<\/jats:italic>. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in <jats:italic>PTH1R<\/jats:italic> was demonstrated, but investigations for hypertension yielded normal results. Hypertension has not been previously associated with JMC. Given aberration of the parathyroid hormone (PTH)\/parathyroid\u2010related protein pathway is the underlying pathogenic mechanism attributed to JMC, and also given evidence that hyperparathyroidism plays an important role in blood pressure homeostasis, we propose that hypertension is a hitherto unrecognized feature of JMC.<\/jats:p>","DOI":"10.1002\/ajmg.a.61494","type":"journal-article","created":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T17:32:29Z","timestamp":1579887149000},"page":"768-772","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Severe hypertension\u2014An infantile feature of Jansen metaphyseal chondrodysplasia?"],"prefix":"10.1002","volume":"182","author":[{"given":"Michael T.","family":"Gabbett","sequence":"first","affiliation":[{"name":"School of Biomedical Sciences and Institute of Health and Biomedical Innovation Queensland University of Technology  Brisbane Queensland Australia"},{"name":"School of Medicine Griffith University  Gold Coast Queensland Australia"},{"name":"Faculty of Medicine University of Queensland  Brisbane Queensland Australia"},{"name":"Genetic Health Queensland Metro North Hospital and Health Service  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cassandra J.","family":"Jeavons","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland Metro North Hospital and Health Service  Brisbane Queensland Australia"},{"name":"Department of Medical Imaging Children's Health Queensland  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H.","family":"Gray","sequence":"additional","affiliation":[{"name":"Newborn Services Mater Health Services  Brisbane Queensland Australia"},{"name":"Mater Medical Research Institute  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/309068"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhh.2010.126"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180216"},{"issue":"4","key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1542\/peds.58.4.556","article-title":"Jansen's metaphyseal dysostosis","volume":"58","author":"Gordon S. 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