Cargando…

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue-gray eye sclera. OI is caused by a heterozygous mutation in collagen α-1(I) chain (COL1A1) or collagen α-2(I) chain (...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yang, Qi, Xu, Hong, Luo, Jinsi, Zhang, Qinle, Xie, Bobo, Yi, Sheng, Rong, Xiuliang, Wang, Jin, Qin, Zailong, Jiang, Tingting, Lin, Li, Zuo, Yangjin, Fan, Xin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2018
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802218/ https://www.ncbi.nlm.nih.gov/pubmed/29344653 http://dx.doi.org/10.3892/mmr.2018.8436

Ejemplares similares

Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene
por: Usta, Akin, et al.
Publicado: (2017)

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
por: Yang, Qi, et al.
Publicado: (2019)

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I
por: Wang, Mingyuan, et al.
Publicado: (2019)

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

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)

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

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

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)

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)

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)

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)

Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings
por: Shetty, Shishir Ram, et al.
Publicado: (2011)

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 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)

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
por: Andersson, Kristofer, 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)

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)

COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
por: Dirani, Michella, et al.
Publicado: (2022)

Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta
por: Mai, Qiuyan, et al.
Publicado: (2023)

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

Osteogenesis Imperfecta
por: Sam, Justin Easow, 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)

Anesthetic Management in a Gravida with Type IV Osteogenesis Imperfecta
por: Vue, Elizabeth, et al.
Publicado: (2016)

Exploration of the skeletal phenotype of the Col1a1 (+/Mov13) mouse model for haploinsufficient osteogenesis imperfecta type 1
por: Claeys, Lauria, et al.
Publicado: (2023)

Analysis of miRNAs in Osteogenesis imperfecta Caused by Mutations in COL1A1 and COL1A2: Insights into Molecular Mechanisms and Potential Therapeutic Targets
por: Botor, Malwina, et al.
Publicado: (2023)

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

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
por: Maasalu, Katre, et al.
Publicado: (2015)

The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
por: Sałacińska, Kinga, et al.
Publicado: (2022)

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
por: Mei, Yazhao, et al.
Publicado: (2022)

Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
por: Frederiksen, Anja Lisbeth, et al.
Publicado: (2016)

Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges
por: Papamerkouriou, Y.M., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_n7h471hf5g9u7qiju98m78dm1b