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CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia

Idiopathic infantile hypercalcemia (IIH) was associated with vitamin-D supplementation in the 1950’s. Fifty years later, mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. We report a case of a 21-month old girl, initially h...

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Bibliografiska uppgifter
I publikationen:J Clin Res Pediatr Endocrinol
Huvudupphovsmän: Broby Madsen, Jens Otto, Sauer, Sabrina, Beck, Bodo, Johannesen, Jesper
Materialtyp: Artigo
Språk:Inglês
Publicerad: Galenos Publishing 2018
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838379/
https://ncbi.nlm.nih.gov/pubmed/28874334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.4841
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