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Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation

Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neur...

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Detalles Bibliográficos
Autores principales:	Guerreiro, R., Brás, J., Batista, S., Pires, P., Ribeiro, M. H., Almeida, M. R., Oliveira, C., Hardy, J., Santana, I.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2016
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026059/ https://www.ncbi.nlm.nih.gov/pubmed/27415614 http://dx.doi.org/10.1111/gbb.12308

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