Associated Papers
Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.
Wang Q et al.
American Journal of Medical Genetics. Part A, 2025
Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.
Tan Z et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.
Hu J et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Effects of WNT1 c.110 T>C and c.505G>T mutations on osteoblast differentiation via the WNT1/β-catenin signaling pathway.
Zhang B et al.
Journal of Orthopaedic Surgery and Research, 2021
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
Kuptanon C et al.
Bmc Medical Genetics, 2018
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
Umair M et al.
Pediatric Research, 2017
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.
Liu Y et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
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