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-Reference-Cited by-同舟云学术

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

Published:2020-03-11 Issue:5 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lu Weiliang¹^ORCID,Liang Mingxing¹,Su Jiasun¹,Wang Jin¹,Li Lingxiao²,Zhang Shujie¹,Qin Zailong¹,Huang Limei¹,Lu Yingchi¹,Yi Shang¹,Yi Sheng¹,Xie BoBo¹,Zheng Haiyang¹,Luo Jingsi¹,Gao Xiaoyan²,Shen Yiping¹³⁴⁵^ORCID

Affiliation:

1. Genetic and Metabolic Central Laboratory Birth Defect Prevention Research Institute Maternal and Child Health Hospital Children’s Hospital of Guangxi Zhuang Autonomous Region Nanning China

2. Department of Neonatology Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning China

3. Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children’s Medical Center Shanghai Jiao Tong University School of Medicine Shanghai China

4. Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA

5. Department of Neurology Harvard Medical School Boston MA USA

Funder

Natural Science Foundation of Guangxi Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1212

Reference7 articles.

1. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures