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An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature
Vitamin D‐dependent rickets type 1 (VDDRIA) is an autosomal recessive disorder caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene, which encodes for the enzyme 1 alpha‐hydroxylase. We report a known case of VDDRIA with hypotonia, growth and developmental disorde...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984874/ https://www.ncbi.nlm.nih.gov/pubmed/36879673 http://dx.doi.org/10.1002/ccr3.7007 |