PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome

PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome

Abstract Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males. Phenotypically, PBS cases manifest three cardinal pathological features: urinary tract dilation with poorly contractile smooth muscle, wrinkled flaccid ven...

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Bibliographic Details
Main Authors: Nathalia G. Amado, Elena D. Nosyreva, David Thompson, Thomas J. Egeland, Osita W. Ogujiofor, Michelle Yang, Alexandria N. Fusco, Niccolo Passoni, Jeremy Mathews, Brandi Cantarel, Linda A. Baker, Ruhma Syeda
Format: Article
Language:English
Published: Nature Portfolio 2024-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-44594-0

Internet

https://doi.org/10.1038/s41467-023-44594-0

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