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Disease

Jansen’s metaphyseal chondrodysplasia

Jansen’s metaphyseal chondrodysplasia (JMC)

03-06-2017

Jansen’s metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant human disorder characterized short-limbed dwarfism due to delayed chondrocyte differentiation and an associated, usually severe hypercalcemia and hypophosphatemia, despite normal or undetectable serum levels of PTH or PTHrP. These abnormalities are caused by mutations in the PTHR1 that lead to constitutive, PTH- and PTHrP-independent receptor activation. […]

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Hirschsprung’s disease

Hirschsprung’s disease

14-03-2016

Hirschsprung’s disease is a disorder of the nerve supply of the intestine, especially the large intestine, where the newborn is unable to have normal bowel movements. The feces get jammed in the large intestine, the tummy bloats and the obstruction can be disastrous, even fatal. Those who escape the newborn period have nagging constipation, poor […]

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