Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
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DOI：
10.1111/ijd.14905
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发表时间：
2020-05-09
影响因子：
3.6
通讯作者：
Mosam, Anisa
中科院分区：
文献类型：
--
作者：
Chateau, Antoinette;Kutsche, Kerstin;Mosam, Anisa
小眼、皮肤发育不全和巩膜（MIDAS）综合征，[1]后来由于缺乏皮肤发育不全而更名为小眼伴线性皮肤缺损（MLS）综合征，[2]以X连锁方式遗传，在男性中具有致死性。DXYS 129（红色）仅在野生型X染色体（WT X）上产生信号，证实另一条X染色体上的p臂末端缺失[del（X）]。国际皮肤病学杂志的版权是Wiley-Blackwell的财产，未经版权保持器的明确书面许可，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列表服务器。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。不保证副本的准确性。用户应参考原始出版版本的材料的完整摘要。版权适用于所有摘要。
Microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome,[1] later renamed microphthalmia with linear skin defects (MLS) syndrome due to the absence of dermal aplasia,[2] is inherited in an X-linked manner with lethality in males. DXYS129 (red) gave only a signal on the wild-type X chromosome (WT X), confirming the terminal deletion of the p arm on the other X chromosome [del (X)].[Extracted from the article]Copyright of International Journal of Dermatology 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.