Article
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.
Journal of human genetics - 1 Jul 2024
Wang Lin, Mizumoto Shuji, Zhang Ruixue, Zhang Yuqi, Liu Yuan, Cheng Wenjing, Li Xin, Dan Min, Zhang Chunyan, Gao Xinru, Wang Juan, Han Jiaqi, Jiao Lianying, Wang Yating, Jin Qiujie, Yang Lihui, Li Chenxing, Li Shuxian, Zhu Jinhui, Jiang Hai, Nishimura Gen, Yamada Takahiro, Yamada Shuhei, Cai Na, Qiang Rong, Guo Long
Abstract excerpt
Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex genetic etiology. This study aimed to analyze and identify pathogenic variants in a fetus with SCDO. Copy number variant sequencing and whole exome sequencing were performed on a Chinese fetus with SCDO, followed by bioinformatics analyses, in...
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