Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Abstract Background Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing is now part of the diagnostic workup alongside the...

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Үндсэн зохиолчид:	Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2024-05-01
Цуврал:	Orphanet Journal of Rare Diseases
Нөхцлүүд:	ERN Gene curation ISSVA Mosaic Precision medicine Postzygotic
Онлайн хандалт:	https://doi.org/10.1186/s13023-024-03196-9
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!