Timely diagnosis of vascular Ehlers Danlos syndrome – the need for genetic testing and counselling
| العنوان: | Timely diagnosis of vascular Ehlers Danlos syndrome – the need for genetic testing and counselling |
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| المؤلفون: | J. G. R. Kromberg, Amanda Krause, Candice Feben, Andrew McDonald |
| المصدر: | South African Journal of Surgery; Vol 56, No 3 (2018); 30-33 South African Journal of Surgery, Volume: 56, Issue: 3, Pages: 30-33, Published: SEP 2018 |
| بيانات النشر: | Health & Medical Publishing Group, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Referral, business.industry, Genetic counseling, Hereditary disorders, 030105 genetics & heredity, medicine.disease, Timely diagnosis, 03 medical and health sciences, 0302 clinical medicine, Ehlers–Danlos syndrome, Intervention (counseling), medicine, Surgery, Young female, business, 030217 neurology & neurosurgery, Genetic testing |
| الوصف: | Summary: We present a case of a young female patient diagnosed clinically and molecularly with V-EDS and briefly review the published literature on this severe condition. Additionally, the case is used to highlight the need for early confirmation of diagnosis and appropriate referral to allow surveillance, intervention and genetic counselling. |
| وصف الملف: | application/pdf; text/html |
| اللغة: | English |
| تدمد: | 0038-2361 2078-5151 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee89337fbd7138770ed60cb76b2ec91a https://www.ajol.info/index.php/sajs/article/view/178547 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....ee89337fbd7138770ed60cb76b2ec91a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00382361 20785151 |
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