Associated Papers
Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.
Köprülü Ö et al.
Turkish Archives of Pediatrics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S11_FC_Founder_variants_
Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam.
Tran TAT et al.
Diagnostics (basel, Switzerland), 2025
Heterozygous CYP27B1 c.262delG pathogenic variant and its impact on vitamin D metabolites and phosphocalcic profile in humans.
Girard L et al.
Frontiers in Physiology, 2025
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
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
35488281 (PubMed )
Supplement: 12920_2022_1249_MOESM1_ESM.xlsx › Supplemental_Table_3
Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Fortin CA et al.
Frontiers in Endocrinology, 2022
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Kaygusuz SB et al.
Calcified Tissue International, 2021
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