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

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

Abstract 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 neonat...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ASCC1
compound heterozygous
exome sequencing
gene curation
Online Access:https://doi.org/10.1002/mgg3.1212

Internet

https://doi.org/10.1002/mgg3.1212

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