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Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by very high serum calcium concentrations (> 15 mg/dl). Many cases have occurred in families with familial hypocalciuric hypercalcemia, a benign condition transmitted as a dominant trait. Among several hypothesi...

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Autores principales: Pollak, M R, Chou, Y H, Marx, S J, Steinmann, B, Cole, D E, Brandi, M L, Papapoulos, S E, Menko, F H, Hendy, G N, Brown, E M
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC294052/
https://ncbi.nlm.nih.gov/pubmed/8132750
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