دورية أكاديمية
NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas
| العنوان: | NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas |
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| المؤلفون: | Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda |
| المصدر: | Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (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 Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient’s blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2054-345X |
| العلاقة: | https://doaj.org/toc/2054-345XTest |
| DOI: | 10.1038/s41439-024-00279-8 |
| الوصول الحر: | https://doaj.org/article/020c56ae67c24076a79327c1344ae142Test |
| رقم الانضمام: | edsdoj.020c56ae67c24076a79327c1344ae142 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 2054345X |
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| DOI: | 10.1038/s41439-024-00279-8 |