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A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability.

作者信息

Deng Weiping, Liu Ruihong, Chen Mingwei, Zhu Guoxing, Wang Yimimg

机构信息

Department of Dermatology and Venereology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences),Southern Medical University, Guangzhou 510080,China.

Department of Experimental Medicine, Fifth Affiliated Hospital, SunYat-sen University, Zhuhai 519000, China.

出版信息

Eur J Dermatol. 2023 Aug 1;33(4):426-428. doi: 10.1684/ejd.2023.4512.

DOI:10.1684/ejd.2023.4512
PMID:37823494
Abstract
摘要

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