Associated Papers
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
Bin-Abbas B et al.
Journal of the Endocrine Society, 2026
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
Genotype, Phenotype Characteristics and Long-Term Follow-Up of Patients with Vitamin D-Dependent Rickets Type IA: A Nationwide Multi-Centre Retrospective Cross-Sectional Study.
Cayir A et al.
Hormone Research in Paediatrics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
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
A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges.
Statha E et al.
Hormones (athens, Greece), 2024
A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.
Toral López J et al.
Diseases (basel, Switzerland), 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
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
Exome Sequencing in Monogenic Forms of Rickets.
Jacob P et al.
Indian Journal of Pediatrics, 2023
Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.
Yi C et al.
Experimental and Therapeutic Medicine, 2022
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
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
The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.
Ozden A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.
Li Y et al.
Orphanet Journal of Rare Diseases, 2020
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
A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.
Kim YM et al.
Annals of Pediatric Endocrinology & Metabolism, 2019
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
Dursun F et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.
Tahir S et al.
Hormone Research in Paediatrics, 2016
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
Rauch F et al.
Calcified Tissue International, 2014
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.
Durmaz E et al.
Clinical Endocrinology, 2012