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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Galenos Publishing
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838379/ https://www.ncbi.nlm.nih.gov/pubmed/28874334 http://dx.doi.org/10.4274/jcrpe.4841 |