Associated Papers
Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.
Demir K et al.
Odontology, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P et al.
Orphanet Journal of Rare Diseases, 2023
37730650 (PubMed )
Supplement: 13023_2023_2906_MOESM2_ESM.xlsx › Sheet1
Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen Defect.
Chou CC et al.
Translational Vision Science & Technology, 2023
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.
Chen P et al.
Orphanet Journal of Rare Diseases, 2022
35765008 (PubMed )
Supplement: 13023_2022_2394_MOESM3_ESM.pdf
Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.
Panigrahi I et al.
Journal of Pediatric Genetics, 2022
Diversity in heritable disorders of connective tissue at a single center.
Hsu RH et al.
Connective Tissue Research, 2021
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.
Chen X et al.
Frontiers in Genetics, 2021
34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang JY et al.
Calcified Tissue International, 2017
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Minillo RM et al.
Molecular Syndromology, 2014
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
Cho SY et al.
Journal of Korean Medical Science, 2013
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