A novel MED12 mutation associated with non-specific X-linked intellectual disability.
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
复制标题
一种与非特异性X连锁智力残疾相关的新型Med12突变。
DOI：
10.1038/hgv.2015.18
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发表时间：
2015
影响因子：
1.5
通讯作者：
Shimojima K
中科院分区：
文献类型：
--
作者：
Yamamoto T;Shimojima K
The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synonymous single-nucleotide variant, p.Ile1023Val, in a male patient with non-specific X-linked intellectual disability (XLID). Our results, together with the existence of similar reports, suggest a relationship between MED12 variants and XLID.
