Global ETD Search
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Showing 1 to 1 of 1 for “"VDDR1A"”.
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Déploiement et évaluation d’une offre de test de dépistage néonatal pour le rachitisme vitamino-dépendant de type 1A
Vitamin D-Dependent Rickets Type 1A (VDDR1A) is an autosomal recessive inherited disease caused by variants in the CYP27B1 gene, which is required for vitamin D activation. Although rare worldwide, the prevalence is 1 in 2916 births in the Saguenay-Lac-Saint-Jean (SLSJ), Haute-Côte-Nord (HCN) and …