دورية أكاديمية
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
| العنوان: | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus |
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| المؤلفون: | Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová |
| المصدر: | Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024) |
| بيانات النشر: | Nature Publishing Group, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Genetics LCC:Life |
| مصطلحات موضوعية: | Genetics, QH426-470, Life, QH501-531 |
| الوصف: | Abstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2054-345X |
| Relation: | https://doaj.org/toc/2054-345X |
| DOI: | 10.1038/s41439-024-00263-2 |
| URL الوصول: | https://doaj.org/article/0477920311324cb1b6923674509fc056 |
| رقم الأكسشن: | edsdoj.0477920311324cb1b6923674509fc056 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 2054345X |
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| DOI: | 10.1038/s41439-024-00263-2 |