Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients
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DOI: 10.1038/s41431-019-0373-x
Abstract: Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient… read more here.
Keywords: genotype phenotype; phenotype correlation; imperfecta; osteogenesis imperfecta ... See more keywords
Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Immunology Research"
DOI: 10.1155/2022/5068523
Abstract: Background As a heterogeneous hereditary connective tissue disorder, osteogenesis imperfecta (OI) is clinically characterized by increased fracture susceptibility. Analysis of genetic pathogenic variants in patients with OI provides a basis for genetic counseling and prenatal… read more here.
Keywords: genes chinese; imperfecta; skeletal genes; screening skeletal ... See more keywords
Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0579-8
Abstract: BackgroundOsteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1… read more here.
Keywords: imperfecta; case; autosomal recessive; gene ... See more keywords
Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study
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DOI: 10.1186/s12903-018-0497-3
Abstract: BackgroundOsteogenesis Imperfecta (OI) is characterized by a number of deviations in the orofacial region. The aims of the present study were to investigate the occurrence of temporomandibular disorders, to evaluate the psychosocial status, and to… read more here.
Keywords: psychosocial status; imperfecta; study; moderate severe ... See more keywords
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Biomedical Science"
DOI: 10.1186/s12929-018-0481-x
Abstract: IntroductionOsteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations… read more here.
Keywords: mutation g324c; imperfecta; novel mutation; family ... See more keywords
Dentinogenesis imperfecta type II in Swedish children and adolescents
Sign Up to like & getrecommendations! Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0887-2
Abstract: BackgroundDentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a syndromic form associated with osteogenesis imperfecta (OI), and DGI type II, a non-syndromic… read more here.
Keywords: imperfecta; dgi type; children adolescents; type ... See more keywords