Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.

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Title: Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.
Authors: Zhuang, Jianlong1 (AUTHOR) 415913261@qq.com, Luo, Qi2 (AUTHOR), Xie, Meihua3 (AUTHOR), Chen, Yu'e4 (AUTHOR), Jiang, Yuying1 (AUTHOR), Zeng, Shuhong1 (AUTHOR), Wang, Yuanbai1 (AUTHOR), Xie, Yingjun5,6 (AUTHOR) xieyjun@mail2.sysu.edu.cn, Chen, Chunnuan7 (AUTHOR) chenchunnuan1983@aliyun.com
Source: Molecular Genetics & Genomic Medicine. Mar2023, Vol. 11 Issue 3, p1-6. 6p.
Database: Academic Search Ultimate
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ISSN:23249269
DOI:10.1002/mgg3.2121