ReviewCalcified tissue international2021
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Review in Calcified tissue international, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Vitamin D-dependent Rickets Type 1A: Recognizing Clinical Clues to Avoid Delayed Diagnosis.Cureus · 2026Article
- Refractory Rickets: Evaluation and Management.Indian journal of pediatrics · 2026Review
- Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.Medicina (Kaunas, Lithuania) · 2025Article
- 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
- Vitamin D-Dependent Rickets Type 1A in Two Siblings with a HypomorphicJournal of pediatric genetics · 2024Article
- Exome Sequencing in Monogenic Forms of Rickets.Indian journal of pediatrics · 2023Article
- Approach to Rickets: Is It Calciopenic or Phosphopenic?Turkish archives of pediatrics · 2023Article
- Danon Disease: EntireGenes · 2023Review
- Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.JCEM case reports · 2023Article
- Refractory Rickets.Indian journal of pediatrics · 2023Review
- An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature.Clinical case reports · 2023Article
- Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.Experimental and therapeutic medicine · 2022Article
- Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.Frontiers in endocrinology · 2022Article
- Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.Frontiers in pediatrics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vitamin D-dependent rickets type IA (VDDR-IA) is caused by biallelic mutations in CYP27B1. Data regarding genotype-phenotype correlation in VDDR-IA are scarce. Here, we aimed to investigate clinical/genotypic features and long-term follow-up of 13 new cases with VDDR-IA and genotype-phenotype correlation of reported cases in the literature. Thirteen patients with VDDR-IA were evaluated. Eight patients had reached their final height at the time of the study and, for whom, long-term outcome data were analyzed. Further, all VDDR-IA patients in the literature (n:183) were analyzed and clinical-genetic features were recorded. The median age of diagnosis was 2.55 ± 1.13 (1.0-12) years. Initial diagnoses before referral to our clinic were nutritional rickets (n:7), hypophosphatemic rickets (n:2), and pseudohypoparathyroidism (n:1). All had biochemical evidence suggestive of VDDR-IA; except one with elevated 1,25(OH)
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.