Cargando…

Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient

Spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia associated with kyphosis and low bone mineral density, significantly delayed growth, and skeletal deformities. Blood lysosomal enzyme levels have also been shown to be elevated with a delay in development. The first variant described...

Descripción completa

Detalles Bibliográficos
Autores principales:	Alotaibi, Maha, Aldossari, Ali, Khan, Imran, Alotaibi, Leena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626241/ https://www.ncbi.nlm.nih.gov/pubmed/36330313 http://dx.doi.org/10.1155/2022/5498109

Ejemplares similares

Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type
por: Chen, Congli, et al.
Publicado: (2023)

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant
por: Yuan, Yeqing, et al.
Publicado: (2023)

True Generalized Microdontia and Hypodontia with Spondyloepiphyseal Dysplasia
por: Singhal, Anita, et al.
Publicado: (2013)

General anaesthesia for parturients with spondyloepiphyseal dysplasia: Risky but possible!
por: Mitra, Sukanya, et al.
Publicado: (2016)

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
por: Zheng, Wen‐bin, et al.
Publicado: (2020)

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
por: Akahira-Azuma, Moe, et al.
Publicado: (2022)

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
por: Gourgas, Ophélie, et al.
Publicado: (2023)

Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family
por: Chung, Sang Wan, et al.
Publicado: (2016)

Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress
por: Saleem, Sidra, et al.
Publicado: (2019)

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
por: De Kinderen, Pauline, et al.
Publicado: (2023)

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
por: Kausar, Mehran, et al.
Publicado: (2022)

Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia
por: Matsushita, Masaki, et al.
Publicado: (2021)

Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder
por: Singh, Sarvesh Kumar, et al.
Publicado: (2016)

A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita
por: Ishida, Yuichiro, et al.
Publicado: (2018)

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study
por: Al Kaissi, Ali, et al.
Publicado: (2019)

X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
por: Ryu, Hyejin, et al.
Publicado: (2012)

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
por: Nenna, Raffaella, et al.
Publicado: (2019)

Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia
por: Yang, Xiao, et al.
Publicado: (2023)

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases
por: Won, Joon Yeon, et al.
Publicado: (2019)

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
por: Zhang, Cai, et al.
Publicado: (2020)

A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report
por: Zhang, Li, et al.
Publicado: (2021)

Biomedical and Social Aspects of Spondyloepiphyseal Dysplasia Tarda Cases from Bengkulu District of Indonesia
por: Ruyani, A., et al.
Publicado: (2012)

Biological Apexogenesis of Undeveloped Tooth in a Patient with Spondyloepiphyseal Dysplasia: A Case Report
por: Ashraf, Hengameh, et al.
Publicado: (2010)

Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases
por: Falls, Cody J, et al.
Publicado: (2022)

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita
por: Huang, Xiangjun, et al.
Publicado: (2015)

An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture
por: Murgiano, Leonardo, et al.
Publicado: (2016)

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
por: Takagi, Masaki, et al.
Publicado: (2015)

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature
por: Chen, Zan, et al.
Publicado: (2022)

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family
por: Ma, Jian, et al.
Publicado: (2023)

Osteoarthritis in a fifty-year-old patient with unfused skeleton due to undiagnosed coexisting cleidocranial and spondyloepiphyseal dysplasia – Case report
por: Zaidi, Dr Mahum, et al.
Publicado: (2022)

X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India
por: Tamhankar, Parag M, et al.
Publicado: (2020)

Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy Associated with Early-onset Hip Arthritis – A Case Report
por: Prabaharan, C., et al.
Publicado: (2021)

Total Knee Arthroplasty in Spondyloepiphyseal Dysplasia with Irreducible Congenital Dislocation of the Patella: Case Report and Literature Review
por: Sponer, Pavel, et al.
Publicado: (2021)

MBTPS2 acts as a regulator of lipogenesis and cholesterol synthesis through SREBP signalling in prostate cancer
por: Tibbo, Amy J., et al.
Publicado: (2023)

Structural Variations in Articular Cartilage Matrix Are Associated with Early-Onset Osteoarthritis in the Spondyloepiphyseal Dysplasia Congenita (Sedc) Mouse
por: Macdonald, David W., et al.
Publicado: (2013)

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
por: Fukuma, Mami, et al.
Publicado: (2018)

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
por: Kong, Lei, et al.
Publicado: (2018)

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
por: Kusano, Chieko, et al.
Publicado: (2017)

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
por: Zhou, Tangjun, et al.
Publicado: (2021)

Kondo peak splitting and Kondo dip induced by a local moment
por: Niu, Pengbin, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_mt26j1ht3b9pnqlls17oioj5h0