Please use this identifier to cite or link to this item:
https://dora.health.qld.gov.au/qldresearchjspui/handle/1/4575
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Jeavons, C. J. | en |
dc.contributor.author | Gray, P. H. | en |
dc.contributor.author | Gabbett, M. T. | en |
dc.date.accessioned | 2022-11-07T23:54:12Z | - |
dc.date.available | 2022-11-07T23:54:12Z | - |
dc.date.issued | 2020 | en |
dc.identifier.citation | 182, (4), 2020, p. 768-772 | en |
dc.identifier.other | RIS | en |
dc.identifier.uri | http://dora.health.qld.gov.au/qldresearchjspui/handle/1/4575 | - |
dc.description.abstract | Jansen 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.iso | en | en |
dc.relation.ispartof | American Journal of Medical Genetics, Part A | en |
dc.title | Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia? | en |
dc.type | Article | en |
dc.identifier.doi | 10.1002/ajmg.a.61494 | en |
dc.subject.keywords | human | en |
dc.subject.keywords | hyperparathyroidism | en |
dc.subject.keywords | hypertelorism | en |
dc.subject.keywords | hypertension | en |
dc.subject.keywords | Jansen metaphyseal chondrodysplasia | en |
dc.subject.keywords | male | en |
dc.subject.keywords | micrognathia | en |
dc.subject.keywords | mutational analysis | en |
dc.subject.keywords | neonatal respiratory distress syndrome | en |
dc.subject.keywords | positive end expiratory pressure ventilation | en |
dc.subject.keywords | priority journal | en |
dc.subject.keywords | PTH1R gene | en |
dc.subject.keywords | sequence analysis | en |
dc.subject.keywords | newborn | en |
dc.subject.keywords | captoprilparathyroid hormone receptor 1 | en |
dc.subject.keywords | article | en |
dc.subject.keywords | birth weight | en |
dc.subject.keywords | blood pressure regulation | en |
dc.subject.keywords | brachycephaly | en |
dc.subject.keywords | case report | en |
dc.subject.keywords | choana atresia | en |
dc.subject.keywords | chondrodysplasia | en |
dc.subject.keywords | clinical article | en |
dc.subject.keywords | clinical feature | en |
dc.subject.keywords | drug dose titration | en |
dc.subject.keywords | exophthalmos | en |
dc.subject.keywords | gain of function mutation | en |
dc.subject.keywords | gene | en |
dc.subject.keywords | head circumference | en |
dc.relation.url | https://www.embase.com/search/results?subaction=viewrecord&id=L2004157343&from=exporthttp://dx.doi.org/10.1002/ajmg.a.61494 | | en |
dc.identifier.risid | 2207 | en |
dc.description.pages | 768-772 | en |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.languageiso639-1 | en | - |
item.openairetype | Article | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
Appears in Sites: | Children's Health Queensland Publications Queensland Health Publications |
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