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...

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Detalhes bibliográficos
Main Authors: Dauber, Andrew, Nguyen, Thutrang T., Sochett, Etienne, Cole, David E. C., Horst, Ronald, Abrams, Steven A., Carpenter, Thomas O., Hirschhorn, Joel N.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2012
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha: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
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