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Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia
Pediatric Nephrology, 08/11/09
Bacchetta J et al. – The authors report on a 12–year–old girl with a new mutation of the RMRP gene and a severe multisystemic CHH (hematological and pulmonary lesions, severe immune deficiency, arthritis, pancreatic insufficiency, malabsorption, chronic diarrhea) receiving parenteral nutrition who presented with acute symptomatic hypocalcemia and hypercalciuria associated with the presence of autoantibodies directed against the calcium–sensor receptor
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