Jansen's metaphyseal chondrodysplasia | Wikipedia audio article
Channel: wikipedia tts
Date: 2019-05-04

This is an audio version of the Wikipedia Article:
https://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia


00:00:33 1 Presentation
00:01:39 2 Cause
00:01:59 3 Diagnosis
00:02:25 4 Treatment
00:02:42 5 Eponym



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SUMMARY
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Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 (PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation).
JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide.
There are only 2 known families, from Dubai and Texas, in which the disease was passed from mother to daughter (Texas), and from a mother to her 2 sons (Dubai).
www.thejansensfoundation.org