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Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome

5 Jun 2023

Abstract excerpt

Abstract Objectives/aims The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts, ranging from megacystis to Prune Belly syndrome. We aimed to apply a bespoke virtual genetic panel and describe novel variants associated with this condition using whole genome sequencing data within the Genomics England...

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PMID: 37288276
DOI: 10.1007/s44162-023-00012-z

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