Please use this identifier to cite or link to this item: https://dora.health.qld.gov.au/qldresearchjspui/handle/1/4575
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dc.contributor.authorJeavons, C. J.en
dc.contributor.authorGray, P. H.en
dc.contributor.authorGabbett, M. T.en
dc.date.accessioned2022-11-07T23:54:12Z-
dc.date.available2022-11-07T23:54:12Z-
dc.date.issued2020en
dc.identifier.citation182, (4), 2020, p. 768-772en
dc.identifier.otherRISen
dc.identifier.urihttp://dora.health.qld.gov.au/qldresearchjspui/handle/1/4575-
dc.description.abstractJansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R 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-related 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.L20041573432020-02-04 <br />2020-03-24 <br />en
dc.language.isoenen
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen
dc.titleSevere hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?en
dc.typeArticleen
dc.identifier.doi10.1002/ajmg.a.61494en
dc.subject.keywordshumanen
dc.subject.keywordshyperparathyroidismen
dc.subject.keywordshypertelorismen
dc.subject.keywordshypertensionen
dc.subject.keywordsJansen metaphyseal chondrodysplasiaen
dc.subject.keywordsmaleen
dc.subject.keywordsmicrognathiaen
dc.subject.keywordsmutational analysisen
dc.subject.keywordsneonatal respiratory distress syndromeen
dc.subject.keywordspositive end expiratory pressure ventilationen
dc.subject.keywordspriority journalen
dc.subject.keywordsPTH1R geneen
dc.subject.keywordssequence analysisen
dc.subject.keywordsnewbornen
dc.subject.keywordscaptoprilparathyroid hormone receptor 1en
dc.subject.keywordsarticleen
dc.subject.keywordsbirth weighten
dc.subject.keywordsblood pressure regulationen
dc.subject.keywordsbrachycephalyen
dc.subject.keywordscase reporten
dc.subject.keywordschoana atresiaen
dc.subject.keywordschondrodysplasiaen
dc.subject.keywordsclinical articleen
dc.subject.keywordsclinical featureen
dc.subject.keywordsdrug dose titrationen
dc.subject.keywordsexophthalmosen
dc.subject.keywordsgain of function mutationen
dc.subject.keywordsgeneen
dc.subject.keywordshead circumferenceen
dc.relation.urlhttps://www.embase.com/search/results?subaction=viewrecord&id=L2004157343&from=exporthttp://dx.doi.org/10.1002/ajmg.a.61494 |en
dc.identifier.risid2207en
dc.description.pages768-772en
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.languageiso639-1en-
item.openairetypeArticle-
item.grantfulltextnone-
item.fulltextNo Fulltext-
Appears in Sites:Children's Health Queensland Publications
Queensland Health Publications
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