Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population
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DOI: 10.3389/fendo.2022.887371
Abstract: 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… read more here.
Keywords: founder; vitamin dependant; dependant rickets; vitamin ... See more keywords