Homepage  
SymptomsDiseasesGenetestsShipmentSampleContactQuality
   
 



143880


Pedigree


Diagnostic
strategy


Forms


Print page


Sprache
wechseln

Clinical feature: 

Systematic link table: 

CYP24A1

Literature: 

HOOFT C et al. (1961) Familial incidence of hypercalcaemia. Extreme hypersensitivity to vitamin D in an infant whose father suffered from sarcoidosis.
KENNY FM et al. (1963) Metabolic studies in a patient with idiopathic hypercalcemia of infancy.
Méhes K et al. (1975) Possible dominant inheritance of the idiopathic hypercalcemic syndrome.
Misselwitz J et al. (1986) [Hypercalcemia following prophylactic vitamin D administration].
Schlingmann KP et al. (2011) Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
SMITH DW et al. (1959) Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum.
Streeten EA et al. (2011) CYP24A1 mutations in idiopathic infantile hypercalcemia.
Weisman Y et al. (1979) Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D?