Article
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.
Molecular genetics & genomic medicine - 1 May 2020
Lu Weiliang, Liang Mingxing, Su Jiasun, Wang Jin, Li Lingxiao, Zhang Shujie, Qin Zailong, Huang Limei, Lu Yingchi, Yi Shang, Yi Sheng, Xie BoBo, Zheng Haiyang, Luo Jingsi, Gao Xiaoyan, Shen Yiping
Abstract excerpt
BACKGROUND: A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016. METHODS: A proband from a non-consanguineous Chinese family presented with neonatal severe hypotonia, respiratory distress, muscle weakness, and atrophy, as well as congenital bone fractures was performed...
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