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A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population
Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. It is characterized by early onset of rickets with hypocalcemia. We aimed to describe the clinical and laboratory...
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| Publicado no: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Galenos Publishing
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5198011/ https://ncbi.nlm.nih.gov/pubmed/27353739 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.3128 |
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