ArticleFrontiers in pediatrics2022
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Phenotypic Variability in Vitamin D-Dependent Rickets Type 1a: A Case Report of Two Children With the Same CYP27B1 Mutation.Case reports in pediatrics · 2026Article
- Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.Turkish archives of pediatrics · 2025Article
- Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam.Diagnostics (Basel, Switzerland) · 2025Article
- A Novel Compound Nonsense Variant inDiseases (Basel, Switzerland) · 2024Article
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
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Abstract
Purpose: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the Methods: Twelve children from southern China with VDDR1A were enrolled in this study. Their clinical, radiological, biochemical, and molecular findings were analyzed retrospectively. The rickets severity score (RSS), biochemical parameters, and height standard deviation score (HtSDS) were used to evaluate clinical outcomes. Results: Six males and six females were included in this VDDR1A cohort. The age of onset was from 6 months to 1.8 years, and the age at diagnosis was 2.1 ± 0.8 years. The most common clinical symptoms at diagnosis were delayed walking (10/12) and severe growth retardation (9/12). HtSDS at diagnosis was negatively associated with age ( Conclusion: Our study extends the mutational spectrum of VDDR1A and finds a hotspot variant of the
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