Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia

CONTEXT: Idiopathic infantile hypercalcemia (IIH) is a disorder the genetic etiology and physiological basis of which are not well understood. OBJECTIVE: The objective of the study was to describe the underlying physiology and genetic cause of hypercalcemia in an infant with severe IIH and to extend...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Dauber, Andrew, Nguyen, Thutrang T., Sochett, Etienne, Cole, David E. C., Horst, Ronald, Abrams, Steven A., Carpenter, Thomas O., Hirschhorn, Joel N.
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2012
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3275367/
https://ncbi.nlm.nih.gov/pubmed/22112808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-1972
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares