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- W3002104635 abstract "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." @default.
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- W3002104635 date "2020-01-24" @default.
- W3002104635 modified "2023-09-27" @default.
- W3002104635 title "Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?" @default.
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- W3002104635 doi "https://doi.org/10.1002/ajmg.a.61494" @default.
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