Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism.
作者信息
Lin Yunting, Zeng Chunhua, Chen Xiaodan, Li Taolin, Liu Huazhen, Liu Hongsheng, Hu Hao, Liu Li
机构信息
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
出版信息
J Dermatol. 2020 Nov;47(11):e395. doi: 10.1111/1346-8138.15563. Epub 2020 Sep 2.
PMID:32881073
Abstract
摘要
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