Article

Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCR

2026-08-03

Abstract excerpt

Abstract Background Sturge-Weber syndrome (SWS) is a rare genetic neurocutaneous syndrome. While classical (type I) SWS is mainly caused by tissue-specific somatic mosaicism of a recurrent missense variant in the GNAQ gene, other genes have been implicated in SWS. Therefore, genetic testing at an early stage can support clinical management of affected children and genetic counselling of their families. Methods Thi...

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Literature Corpus work: 89a63450-edfc-53fe-ac31-f97b79126051
DOI: 10.1186/s13023-026-04530-z

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