Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

CONTEXT: Two Argentinean siblings (a boy and a girl) from a nonconsanguineous family presented with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis. OBJECTIVE: The goal of this study was to identify genetic causes of the clinical findings in the t...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Rajagopal, Abbhirami, Braslavsky, Débora, Lu, James T., Kleppe, Soledad, Clément, Florencia, Cassinelli, Hamilton, Liu, David S., Liern, Jose Miguel, Vallejo, Graciela, Bergadá, Ignacio, Gibbs, Richard A., Campeau, Phillipe M., Lee, Brendan H.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2014
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4223446/
https://ncbi.nlm.nih.gov/pubmed/25050900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-1517
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