Bui Phuong Thao

3 weeks ago | mdpi.com | Tran Minh Dien |Ngoc Nguyen |Ngọc Nguyễn |Khanh Nguyen |Bui Phuong Thao

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1 month ago | preprints.org | Tran Minh Dien |Ngoc Nguyen |Ngọc Nguyễn |Khanh Nguyen |Bui Phuong Thao

Submitted:26 February 2025You are already at the latest version Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by mutations in the CYP27B1 gene, leading to a deficiency in active vitamin D (1,25-dihydroxyvitamin D). This study examines the genotypic and phenotypic characteristics of VDDR1A in Vietnamese children. A retrospective analysis was conducted on 19 Vietnamese children diagnosed with VDDR1A.