Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation
Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation
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新型 TAF1 突变引起的男性兄弟姐妹的智力障碍和畸形特征
DOI：
10.1111/cga.12330
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发表时间：
2019
影响因子：
1.3
通讯作者：
Matsumoto Naomichi
中科院分区：
文献类型：
--
作者：
Okamoto Nobuhiko;Arai Hiroshi;Onishi Toshikazu;Mizuguchi Takeshi;Matsumoto Naomichi
tata结合蛋白相关因子1基因（taf1i）编码TFIID复合物的最大组分。SVA内扩大的六聚体与疾病严重程度相关因此，I TAF1 I错义变异体导致两种x连锁遗传综合征，XDP和I TAF1 I ID综合征（MRXS33）。10例患者发现胼胝体发育不全患者2沿胼胝体的脂肪瘤是taf1iid综合征的新发现。【文章摘录】《先天性异常》版权归Wiley-Blackwell所有，未经版权所有者明确书面许可，其内容不得复制或通过电子邮件发送到多个网站或发布到listserv。但是，用户可以打印、下载或通过电子邮件发送文章供个人使用。这篇摘要可以删节。对副本的准确性不作任何保证。用户应参考资料的原始出版版本以获取完整摘要。版权适用于所有摘要。
The TATA-binding protein-associated factor 1 gene (I TAF1 i) encodes the largest component of the TFIID complex. An expanded hexamer within that SVA is correlated with disease severity.[4] Thus, I TAF1 i missense variants are responsible for two X-linked genetic syndromes, XDP and I TAF1 i ID syndrome (MRXS33). Hypoplasia of the corpus callosum has been found in 10 patients.[1] Lipoma along the corpus callosum in patient 2 is a novel finding in I TAF1 i ID syndrome.[Extracted from the article]Copyright of Congenital Anomalies is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. Copyright applies to all Abstracts.