De novoACTG2mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
Thorson, Willa; Diaz-Horta, Oscar; Foster, Joseph; Spiliopoulos, Michail; Quintero, Rubén; Farooq, Amjad; Blanton, Susan; Tekin, Mustafa
- 期刊名称Human Genetics
- 作者Thorson, Willa; Diaz-Horta, Oscar; Foster, Joseph; Spiliopoulos, Michail; Quintero, Rubén; Farooq, Amjad; Blanton, Susan; Tekin, Mustafa
- 卷第133卷
- 期第6期
- 印刷ISSN0340-6717
- 电子ISSN1432-1203
- 文件大小500.26KB
- 发表时间2014-06-13
- DOI10.1007/s00439-013-1406-0
- 页码737-742