دورية أكاديمية
Dominant Stickler Syndrome.
| العنوان: | Dominant Stickler Syndrome. |
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| المؤلفون: | Soh, Zack, Richards, Allan J, McNinch, Annie, Alexander, Philip, Martin, Howard, Snead, Martin |
| بيانات النشر: | MDPI AG Department of Pathology Department of Clinical Neurosciences Genes (Basel) |
| سنة النشر: | 2022 |
| المجموعة: | Apollo - University of Cambridge Repository |
| مصطلحات موضوعية: | COL11A1, COL2A1, Stickler syndrome, giant retinal tear, retinal detachment, vitreous, Arthritis, Connective Tissue Diseases, Craniofacial Abnormalities, Eye Diseases, Hereditary, Hearing Loss, Sensorineural, Humans, Osteochondrodysplasias, Pedigree |
| الوصف: | The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in COL2A1 causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas pathogenic variants of type XI collagen more usually exert dominant negative effects. The severity of the disease phenotype is thus dependent on the location and nature of the mutation, as well as the normal developmental role of the respective protein. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | Electronic; application/pdf |
| اللغة: | English |
| العلاقة: | https://www.repository.cam.ac.uk/handle/1810/339057Test |
| DOI: | 10.17863/CAM.86468 |
| الإتاحة: | https://doi.org/10.17863/CAM.86468Test https://www.repository.cam.ac.uk/handle/1810/339057Test |
| حقوق: | Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.282EDD5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.17863/CAM.86468 |
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