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

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...

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Detalles Bibliográficos
Autores principales: Geraghty, Robert M., Orr, Sarah, Olinger, Eric, Neatu, Ruxandra, Barroso-Gil, Miguel, Mabillard, Holly, Consortium, Genomics England Research, Wilson, Ian, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241726/
https://www.ncbi.nlm.nih.gov/pubmed/37288276
http://dx.doi.org/10.1007/s44162-023-00012-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241726/
https://www.ncbi.nlm.nih.gov/pubmed/37288276
http://dx.doi.org/10.1007/s44162-023-00012-z

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