title: A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.
authors.affiliation: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Guolin
authors.initials: G
authors.lastname: You
authors.affiliation: Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Haiqing
authors.initials: H
authors.lastname: Cai
authors.affiliation: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Limin
authors.initials: L
authors.lastname: Jiang
authors.affiliation: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Zhaojing
authors.initials: Z
authors.lastname: Zheng
authors.affiliation: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China.
authors.forename: Bo
authors.initials: B
authors.lastname: Wang
authors.affiliation: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China. Electronic address: qihuafu@126.com.
authors.forename: Qihua
authors.initials: Q
authors.lastname: Fu
authors.affiliation: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China. Electronic address: wjeney@163.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D002681:China; D018031:Connexin 43 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D010375:Pedigree; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*
chemical_list: D018031:Connexin 43; C500216:GJA1 protein, human; D004247:DNA