Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor

A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Endocrinol Diabetes Metab Case Rep
Autores principales: Taki, Katsumi, Kogai, Takahiko, Sakumoto, Junko, Namatame, Takashi, Hishinuma, Akira
Formato: Artigo
Lenguaje:Inglês
Publicado: Bioscientifica Ltd 2015
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4439728/
https://ncbi.nlm.nih.gov/pubmed/26019872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0016
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares