Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
Bin-Abbas B et al.
Journal of the Endocrine Society, 2026
Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.
Kang TY et al.
Medicina (kaunas, Lithuania), 2025
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
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
Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.
Chimenz R et al.
Endocrine, 2025
High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.
Amaratunga SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Human genetic diseases of phosphate and pyrophosphate metabolism.
Molin A
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2024
Exome Sequencing in Monogenic Forms of Rickets.
Jacob P et al.
Indian Journal of Pediatrics, 2023
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
Rauch F et al.
Calcified Tissue International, 2014
A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets.
Porcu L et al.
Journal of Endocrinological Investigation, 2002
Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1.
Yoshida T et al.
Kidney International, 1998