Academic Journal
Rubinstein–Taybi syndrome: a case report
| العنوان: | Rubinstein–Taybi syndrome: a case report |
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| المؤلفون: | Jagtap, Saylee S., Inamdar, Prithi, Pal, Rajdeep, Rai, Rajesh K. |
| المصدر: | International Journal of Contemporary Pediatrics; Vol 9, No 11 (2022): November 2022; 1109-1111 ; 2349-3291 ; 2349-3283 |
| بيانات النشر: | Medip Academy |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Rubinstein Taybi syndrome, Genetic condition, CREBBP gene, EP300 gene |
| الوصف: | Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by a mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It is characterized by short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs and toes. It occurs in estimated 1 in 1,25000 to 3,00000 births. Diagnosis mainly depends upon the presence of distinctive features, abnormal facies, abnormalities of limbs. These patients are also at increased risk of developing meningioma, other brain tumours and leukaemia, thus early diagnosis and recognition of malignancy can aid in successful life-saving interventions. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | https://www.ijpediatrics.com/index.php/ijcp/article/view/5088/3118; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/5088/5427; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/5088/5428; https://www.ijpediatrics.com/index.php/ijcp/article/downloadSuppFile/5088/5429; https://www.ijpediatrics.com/index.php/ijcp/article/view/5088 |
| DOI: | 10.18203/2349-3291.ijcp20222630 |
| الاتاحة: | https://www.ijpediatrics.com/index.php/ijcp/article/view/5088 https://doi.org/10.18203/2349-3291.ijcp20222630 |
| Rights: | Copyright (c) 2022 International Journal of Contemporary Pediatrics |
| رقم الانضمام: | edsbas.9CAA036A |
| قاعدة البيانات: | BASE |
| DOI: | 10.18203/2349-3291.ijcp20222630 |
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