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

标题
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
作者
关键词
Osteogenesis Imperfecta, Thin Filament, Posterior Urethral Valve, Thoracic Aortic Aneurysm, Small Bowel Transplantation
出版物
HUMAN GENETICS
Volume 133, Issue 6, Pages 737-742
出版商
Springer Nature
发表日期
2013-12-12
DOI
10.1007/s00439-013-1406-0

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