Cargando…

Lumbar Scheuermann’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report

BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90 % of OI cases are caused by type I collagen variants encoded by the collagen type I alpha 1 (COL1A1) or type...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Shiwei, Wang, Xiaoli, Teng, Xiaochun, Li, Songbai, Zhang, Hanyi, Shan, Zhongyan, Li, Yushu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185920/ https://www.ncbi.nlm.nih.gov/pubmed/34098919 http://dx.doi.org/10.1186/s12891-021-04401-7

Ejemplares similares

Genetic evaluation of suspected osteogenesis imperfecta (OI)
por: Byers, Peter H., et al.
Publicado: (2006)

Evaluation of Stomatognathic Problems in Children with Osteogenesis Imperfecta (Osteogenesis Imperfecta − OI) − Preliminary Study
por: Smoląg, Danuta, et al.
Publicado: (2017)

A rare case of osteogenesis imperfecta (OI): clinical image
por: Dhage, Prasad Pramod, et al.
Publicado: (2022)

Living with OI = Osteogenesis imperfecta = brittle bone disease
por: Wallentin, Ute
Publicado: (2010)

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
por: Han, Yaxin, et al.
Publicado: (2020)

Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome
por: Wang, Dongdong, et al.
Publicado: (2019)

Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
por: Aftab, S A S, et al.
Publicado: (2013)

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
por: Takagi, Masaki, et al.
Publicado: (2014)

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
por: Lindert, U., et al.
Publicado: (2017)

The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis
por: Barlow, Sophie, et al.
Publicado: (2022)

Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire
por: Dogba, Maman Joyce, et al.
Publicado: (2016)

Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic
por: Smyth, Debra, et al.
Publicado: (2023)

Giving Children With Osteogenesis Imperfecta a Voice: Participatory Approach for the Development of the Interactive Assessment and Communication Tool Sisom OI
por: Siedlikowski, Maia, et al.
Publicado: (2020)

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
por: Ho Duy, Binh, et al.
Publicado: (2016)

A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss
por: Pan, Ti-Ti, et al.
Publicado: (2023)

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
por: Zhytnik, Lidiia, et al.
Publicado: (2017)

Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta
por: Jung, Hyerin, et al.
Publicado: (2021)

MON-493 A Unique Case of Severe Osteogenesis Imperfecta Due to a Novel Heterozygous Mutation in COL1A1 Gene with Overlapping Hypophosphatasia Phenotype
por: Bakhach, Marwan, et al.
Publicado: (2019)

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
por: Santana, Adolfredo, et al.
Publicado: (2018)

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta
por: Yang, Kai, et al.
Publicado: (2022)

Micro Ribonucleic Acid−29a (miR−29a) Antagonist Normalizes Bone Metabolism in Osteogenesis Imperfecta (OI) Mice Model
por: Ko, Jih-Yang, et al.
Publicado: (2023)

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta
por: Cruz-Centeno, Nelimar, et al.
Publicado: (2022)

Osteogenesis imperfecta
por: Vitturi, Bruno Kusznir, et al.
Publicado: (2018)

Osteogenesis Imperfecta
por: Sam, Justin Easow, et al.
Publicado: (2017)

Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
por: Lin, Zejia, et al.
Publicado: (2019)

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta
por: Zhang, Hao, et al.
Publicado: (2017)

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family
por: Liu, Wei, et al.
Publicado: (2007)

A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
por: Seto, Toshiyuki, et al.
Publicado: (2017)

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta
por: El-Gazzar, Ahmed, et al.
Publicado: (2021)

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta
por: Yamada, Chieko, et al.
Publicado: (2022)

Macular neovascularisation in a patient with osteogenesis imperfecta exhibiting a novel COL1A1 mutation
por: Sato, Yoshiki, et al.
Publicado: (2022)

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
por: Zhytnik, Lidiia, et al.
Publicado: (2019)

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects
por: Yang, Lin, et al.
Publicado: (2022)

Experiences of Children With Osteogenesis Imperfecta in the Co-design of the Interactive Assessment and Communication Tool Sisom OI: Secondary Analysis of Qualitative Design Sessions
por: Siedlikowski, Maia, et al.
Publicado: (2021)

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study
por: Andersson, Kristofer, et al.
Publicado: (2017)

Dentinogenesis imperfecta associated with osteogenesis imperfecta
por: Biria, Mina, et al.
Publicado: (2012)

Osteogenesis Imperfecta in a Family
por: Bose, K. S.
Publicado: (1953)

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta
por: Tang, Yen-An, et al.
Publicado: (2020)

A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II
por: Jacinto, Joana G. P., et al.
Publicado: (2021)

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
por: Gupta, Nidhi, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_cf877ddhmivhd2bcuj2getuldg