Associated Papers
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
Bin-Abbas B et al.
Journal of the Endocrine Society, 2026
Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.
Wang LK et al.
American Journal of Medical Genetics. Part A, 2024
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.
Lin Y et al.
Frontiers in Pediatrics, 2022
Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.
Zou M et al.
Frontiers in Genetics, 2020
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