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Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding s...
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| Publicado no: | Case Rep Endocrinol |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5460444/ https://ncbi.nlm.nih.gov/pubmed/28620554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/3905905 |
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