A homozygous splicing mutation inELAC2suggests phenotypic variability including intellectual disability with minimal cardiac involvement
- 期刊名称Orphanet Journal of Rare Diseases
- 作者Nadia A. Akawi,Salma Ben-Salem,Jozef Hertecant…
- 卷第11卷
- 期第1期
- 电子ISSN1750-1172
- 文件大小2396.69KB
- 发表时间2016-12
- DOI10.1186/s13023-016-0526-8
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