摘要 : We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p.(Glu209Lys). This specific mutation was prev... 展开
作者 | Sakaguchi~ Yuri Yoshihashi~ Hiroshi Uehara~ Tomoko Miyama~ Sahoko Kosaki~ Kenjiro Takenouchi~ Toshiki |
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作者单位 | |
期刊名称 | 《American journal of medical genetics, Part A》 |
总页数 | 5 |
语种/中图分类号 | 英语 / R394 |
关键词 | coloboma intellectual disability PACS1 PACS2 WDR37 |
馆藏号 | N2007EPST0002643 |