نتایج جستجو برای: spondyloepiphyseal dysplasia
تعداد نتایج: 28617 فیلتر نتایج به سال:
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential...
this case report describes treatment of a necrotic immature permanent mandibular first molar with pulpal necrosis in 9-year old female with spondyloepiphyseal dysplasia. the coronal half of the root canal was debrided with a file #30 to remove necrotic tissue, and irrigated with chlorhexidine 0.12%. bleeding was evoked to form an intracanal blood clot; the wound was then dressed with calcium hy...
Mutations in collagen II are associated with spondyloepiphyseal dysplasia, a group of heritable diseases whose common features include aberrations of skeletal growth. The mechanisms through which mutations in collagen II affect the cartilaginous tissues are complex and include both intracellular and extracellular processes. One of those mechanisms involves cellular stress caused by excessive ac...
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site muta...
induce type II achondrogenesis-hydrochondrogenesis, spondyloepiphyseal dysplasia congenita, and Stickler syndrome, along with Kniest syndrome . 6-8) The clinical features of Kniest syndrome include a disproportionately short stature with a short, barrel-shaped chest, kyphoscoliosis, enlargement of joints with limited range of motion, a flat face with prominent eyes, low nasal bridge, myopia tha...
W olcott-Rallison syndrome (OMIM 226980) is a rare autosomal recessive disorder characterised by permanent insulin requiring diabetes developing in the newborn period or early infancy, an early tendency to skeletal fractures, and spondyloepiphyseal dysplasia. The syndrome results from mutations in the gene encoding the eukaryotic translation initiation factor 2-a kinase 3 (EIF2AK3, also called ...
We have generated transgenic mice harboring the deletion of exon 48 in the mouse alpha1(II) procollagen gene (Col2a1). This was the first dominant negative mutation identified in the human alpha1(II) procollagen gene (COL2A1). Patients carrying a single allele with this mutation suffer from a severe skeletal disorder called spondyloepiphyseal dysplasia congenita (SED). Transgenic mice phenotype...
W olcott-Rallison syndrome (OMIM 226980) is a rare autosomal recessive disorder characterised by permanent insulin requiring diabetes developing in the newborn period or early infancy, an early tendency to skeletal fractures, and spondyloepiphyseal dysplasia. The syndrome results from mutations in the gene encoding the eukaryotic translation initiation factor 2-a kinase 3 (EIF2AK3, also called ...
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