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Functional analysis of a novel nonsense variant c.91A>T of the gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda.
Front Genet
August 2023
Henan Provincial People's Hospital, Medical Genetics Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, People's Hospital of Zhengzhou University, Zhengzhou, China.
Spondyloepiphyseal dysplasia tarda (SEDT) is a condition involving late-onset, X-linked recessive skeletal dysplasia caused by mutations in the gene. In this paper, we identified a novel nonsense variant in a SEDT pedigree and analyzed the function of the variant in an attempt to explain the new pathogenesis of the TRAPPC2 protein in SEDT. Briefly, DNA and RNA samples from the peripheral blood of SEDT individuals were prepared.
View Article and Find Full Text PDFSpecific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.
Rheumatology (Oxford)
August 2022
Department of Pediatric Genetics.
Objectives: Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variants in CCN6. This study aimed to describe the early signs and follow-up findings in 44 Turkish PPRD patients.
Methods: The patients with progressive stiffness of multiple joints, characteristic wide metaphysis of interphalangeal (IP) joints and platyspondyly were clinically diagnosed with PPRD.
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
BMC Med Genet
May 2020
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and early onset of degenerative osteoarthritis. Clinical diagnosis can be challenging due to the late-onset of the disease and lack of systemic metabolic abnomalites.
View Article and Find Full Text PDFSchimke Immuno-osseous Dysplasia: A Case Report.
Indian J Nephrol
January 2019
Paediatric Nephrologist, Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Schimke immuno-osseous dysplasia (SIOD) is a rare inherited disease characterized by steroid resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and T-cell immunodeficiency. Focal segmental glomerulosclerosis (FSGS) is the most frequent renal pathological finding associated with proteinuria in SIOD. In this case report, we describe a 4.
View Article and Find Full Text PDFDouble non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report.
BMC Res Notes
February 2018
Department of Spine Surgery, Saga Medical Centre, Koseikan, 400 Nakabaru Kase-Machi, Saga, 840-8571, Japan.
Background: Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries. These fractures require early and aggressive surgical management to enable spinal stability and/or neural decompression. Being highly unstable by nature, they require relatively long segment instrumentation and fusion, which can increase paravertebral soft tissue damage and perioperative bleeding.
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