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Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
OBJECTIVE: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis. METHODS: We...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Galenos Publishing
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398191/ https://www.ncbi.nlm.nih.gov/pubmed/30282619 http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0121 |