Associated Papers
Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.
Elhady G et al.
Clinical Genetics, 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_S12_ClinVar_PLP_variants
Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.
Charpié M et al.
European Journal of Human Genetics : Ejhg, 2024
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.
Udupa P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
Valli M et al.
Clinical Genetics, 2012
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS et al.
European Journal of Human Genetics : Ejhg, 2009
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL et al.
Human Molecular Genetics, 2009
Select a paper to view details