A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex
Nearly 50 congenital disorders of glycosylation (CDG) are known, but many patients biochemically diagnosed with CDG do not have mutations in known genes. Here, we describe a 16-year-old male who was born with microcephaly, developed intellectual disability, gastroesophageal reflux and a seizure diso...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | 英语 |
| 出版: |
2013
|
| 在線閱讀: | https://doi.org/10.1093/hmg/ddt550 https://academic.oup.com/hmg/article-pdf/23/6/1602/2194770/ddt550.pdf |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|