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
ConclusionThis case report expended the mutation spectrum ofASCC1 and support the notion that this novel disease also occurs in outbreed populations and this is a rare disease but may still be underdiagnosed due to its perinatal lethal outcomes.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Weiliang Lu,
Mingxing Liang,
Jiasun Su,
Jin Wang,
Lingxiao Li,
Shujie Zhang,
Zailong Qin,
Limei Huang,
Yingchi Lu,
Shang Yi,
Sheng Yi,
BoBo Xie,
Haiyang Zheng,
Jingsi Luo,
Xiaoyan Gao,
Yiping Shen Tags: CLINICAL REPORT Source Type: research
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