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Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population
BACKGROUND: Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition worldwide, its prevalence is high in the Saguenay-Lac-Saint-Jean (SL...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120640/ https://www.ncbi.nlm.nih.gov/pubmed/35600579 http://dx.doi.org/10.3389/fendo.2022.887371 |