De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Title
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
Authors
Keywords
Osteogenesis Imperfecta, Thin Filament, Posterior Urethral Valve, Thoracic Aortic Aneurysm, Small Bowel Transplantation
Journal
HUMAN GENETICS
Volume 133, Issue 6, Pages 737-742
Publisher
Springer Nature
Online
2013-12-12
DOI
10.1007/s00439-013-1406-0

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