Unexpected discovery of syndromic epilepsy during the genetic exploration of a case of leukemia
| العنوان: | Unexpected discovery of syndromic epilepsy during the genetic exploration of a case of leukemia |
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| المؤلفون: | Audrey Grain, adeline normand, caroline Thomas, camille debord, olivier pichon, Marie Bene, Marion Eveillard, olivier theisen |
| بيانات النشر: | Authorea, Inc., 2022. |
| سنة النشر: | 2022 |
| الوصف: | A three-year-old girl with a history of epilepsy seizures was diagnosed with acute lymphoblastic leukemia. A comprehensive genetic study of blast cells led to the discovery of a constitutional deletion of the PCDH19 gene. This description underlines how modern techniques of molecular investigations in hematological disorders may lead to unexpected findings. |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::de8e13bb4c7683b330505c0d5c58bd0e https://doi.org/10.22541/au.166363923.37968168/v1 |
| رقم الأكسشن: | edsair.doi...........de8e13bb4c7683b330505c0d5c58bd0e |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |