Kniest dysplasia genetic and rare diseases information. The col2a1 gene is responsible for producing type ii collagen. Molecular studies supported the diagnosis of kniest disease by identification of the col2a1 mutation c. Kniest, his patient, the molecular defect, american journal of medical genetics part a on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. If you have problems viewing pdf files, download the latest version of adobe reader.
You will be redirected to the full text document in the repository in a few seconds, if not click here. Kniest syndrome dysplasia is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. Kniest dysplasia genetic and rare diseases information center. Kniest dysplasia is a rare autosomal dominant chondrodysplasia that is. Erika hdez sanabria slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Esta e uma desordem genetica extremamente rara e sua incidencia exata nao e conhecida.
It is one of a spectrum of skeletal disorders caused by mutations in the col2a1 gene. Pdf kniest dysplasia in a girl aged 6 years researchgate. Severe chondrodysplasia caused by the defective formation of type ii collagen characterized by dwarfism, skeletal anomalies, and often cleft palate and. Kniest dysplasia is a disorder of bone growth characterized by short stature dwarfism with other skeletal abnormalities and problems with vision and hearing. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for kniest dysplasia. Orthodontic treatment in a patient with kniest dysplasia.
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