Mowat–Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816)

被引：0
|
作者：
Antun Sasso
Ela Paučić-Kirinčić
Silvija Kamber-Makek
Nada Sindičić
S. Brajnović-Zaputović
Bojana Brajenović-Milić
机构：
[1] Clinical Medical Centre,Department of Pediatric Neurology
[2] University Medical Centre,Department of Biomedical Genetics
来源：
Child's Nervous System | 2008年 / 24卷
关键词：
Mowat–Wilson syndrome; Congenital syndrome; Hirschsprung disease; Seizures; Mental retardation; ZFHX1B gene;
D O I：
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学科分类号：
摘要：
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页码：615 / 618
页数：3
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