Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

BackgroundVitamin 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 (SLSJ...

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Bibliographic Details
Main Authors: Carol-Ann Fortin, Lysanne Girard, Chloé Bonenfant, Josianne Leblanc, Tania Cruz-Marino, Marie-Eve Blackburn, Mathieu Desmeules, Luigi Bouchard
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Endocrinology
Subjects:
VDDR1A
newborn screening
CYP27B1
vitamin D
calcitriol
Saguenay-Lac-Saint-Jean
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.887371/full

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https://www.frontiersin.org/articles/10.3389/fendo.2022.887371/full

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