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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.
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.
Affiliation
  • Lu W; 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.
  • Liang M; 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.
  • Su J; 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.
  • Wang J; 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.
  • Li L; Department of Neonatology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Zhang S; 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.
  • Qin Z; 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.
  • Huang L; 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.
  • Lu Y; 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.
  • Yi S; 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.
  • Yi S; 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.
  • Xie B; 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.
  • Zheng H; 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.
  • Luo J; 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.
  • Gao X; Department of Neonatology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Shen Y; 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.
Mol Genet Genomic Med ; 8(5): e1212, 2020 05.
Article in En | MEDLINE | ID: mdl-32160656
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Carrier Proteins / Spinal Muscular Atrophies of Childhood / Fractures, Bone / Mutation Limits: Humans / Male / Newborn Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Carrier Proteins / Spinal Muscular Atrophies of Childhood / Fractures, Bone / Mutation Limits: Humans / Male / Newborn Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article