Academic Journal
CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts
| العنوان: | CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts |
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| المؤلفون: | Magdalena Kłaniewska, Malgorzata Rydzanicz, Joanna Kosińska, Mateusz Biela, Anna Walczak, Elżbieta Szmida, Anna Rozensztrauch, Rafał Płoski, Robert Śmigiel |
| المصدر: | Pediatria Polska, Vol 96, Iss 2, Pp 148-152 (2021) |
| بيانات النشر: | Termedia Publishing House, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | mosaicism, cloves syndrome, pik3ca mutation, overgrowth., Pediatrics, RJ1-570 |
| الوصف: | CLOVES syndrome is a rare dysmorphic syndrome with multiple defects caused by somatic activating mutations in the PIK3CA gene on chromosome 3q26.32. There are currently less than 200 individuals worldwide living with CLOVES syndrome (OMIM: 612918, ORPHA: 140944). Due to the extremely low prevalence rate of CLOVES syndrome, few epidemiological data are available in the literature. We report 4-year-old girl with somatic mutation in the PIK3CA gene (c.1357G> A) in fibroblast, revealed in the WES study, confirming the diagnosis of CLOVES syndrome. CLOVES syndrome can be very difficult to diagnose, not only because of its extreme rarity, but also due to symptoms which vary both in range of symptoms and severity. Therefore, the case described by us may be helpful in the correct diagnosis of this rare disease in subsequent cases and makes an important contribution in rare disease diagnostics. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0031-3939 2300-8660 |
| Relation: | https://www.termedia.pl/CLOVES-syndrome-caused-by-mosaic-mutation-in-the-PIK3CA-gene-identified-in-fibroblasts,127,44544,1,1.html; https://doaj.org/toc/0031-3939; https://doaj.org/toc/2300-8660 |
| DOI: | 10.5114/polp.2021.107401 |
| URL الوصول: | https://doaj.org/article/8cbc9b869ca44d05a73d2111c9516a41 |
| رقم الانضمام: | edsdoj.8cbc9b869ca44d05a73d2111c9516a41 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 00313939 23008660 |
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| DOI: | 10.5114/polp.2021.107401 |