Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam

Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam

<b>Background</b>: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by mutations in the <i>CYP27B1</i> gene, leading to a deficiency in active vitamin D (1,25-dihydroxyvitamin D). This study examines the genotypic and phenotypic chara...

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Main Authors: Thi Anh Thuong Tran, Tran Minh Dien, Ngoc Lan Nguyen, Khanh Ngoc Nguyen, Thi Bich Ngoc Can, Bui Phuong Thao, Nguyen Thi Thuy Hong, Van Khanh Tran, Thinh Huy Tran, Ngo Xuan Khoa, Nguyen Thi Kim Lien, Nguyen Thien Tao, Huy Hoang Nguyen, Chi Dung Vu
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Diagnostics
Subjects:
vitamin D-dependent rickets type 1A
<i>CYP27B1</i>
Vietnamese children
skeletal deformities
ricket
hypocalcemia
Online Access:https://www.mdpi.com/2075-4418/15/7/918
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