Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations
M Castanet, E Mallet, ML Kottler - The Journal of pediatrics, 2013 - Elsevier
M Castanet, E Mallet, ML Kottler
The Journal of pediatrics, 2013•ElsevierA novel mutation in CYP24A1 provides insight into idiopathic infantile hypercalcemia. In this
report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin
homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently
affected younger brother given vitamin D 400 IU/d was not hypercalcemic.
report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin
homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently
affected younger brother given vitamin D 400 IU/d was not hypercalcemic.
A novel mutation in CYP24A1 provides insight into idiopathic infantile hypercalcemia. In this report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently affected younger brother given vitamin D 400 IU/d was not hypercalcemic.
Elsevier