Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor.
J Pediatr Endocrinol Metab
; 22(6): 561-3, 2009 Jun.
Article
em En
| MEDLINE
| ID: mdl-19694204
ABSTRACT
Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Receptores de Detecção de Cálcio
/
Hipercalcemia
/
Doenças do Recém-Nascido
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article