دورية أكاديمية
A case report of Hennekam syndrome with a mutation in the CCBE1 gene
| العنوان: | A case report of Hennekam syndrome with a mutation in the CCBE1 gene |
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| المؤلفون: | Karaer, D., Durak, T., Karaer, K. |
| بيانات النشر: | Lippincott Williams and Wilkins |
| سنة النشر: | 2024 |
| المجموعة: | Pamukkale University Repository / Pamukkale Üniversitesi Açık Erişim Arşivi |
| مصطلحات موضوعية: | CCBE1 protein, human, calcium binding protein, tumor suppressor protein, case report, craniofacial malformation, intestine lymphangiectasia, lymphedema, mutation, Calcium-Binding Proteins, Craniofacial Abnormalities, Hennekam lymphangiectasia lymphedema syndrome, Humans, Lymphangiectasis, Intestinal, Tumor Suppressor Proteins |
| الوصف: | [No abstract available] |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0962-8827 |
| العلاقة: | Clinical Dysmorphology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/56860Test; https://doi.org/10.1097/MCD.0000000000000488Test; 33; 87; 89; 2-s2.0-85186840507 |
| DOI: | 10.1097/MCD.0000000000000488 |
| الإتاحة: | https://doi.org/10.1097/MCD.0000000000000488Test https://hdl.handle.net/11499/56860Test |
| حقوق: | none |
| رقم الانضمام: | edsbas.63C866B2 |
| قاعدة البيانات: | BASE |
| تدمد: | 09628827 |
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| DOI: | 10.1097/MCD.0000000000000488 |