Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.

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第一作者： Jian,Wang

第一单位： State Key laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

作者： Jian,Wang ^[1] ; Zhigang,Wang ^[2] ; Yu,An ^[3] ; Chunxing,Wu ^[2] ; Yunlan,Xu ^[2] ; Qihua,Fu ^[2] ; Yiping,Shen ^[4] ; Qinghua,Zhang ^[5]

作者单位： State Key laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. ^[1] Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. ^[2] Institute of Biomedical Sciences, Fudan University, Shanghai, China. ^[3] Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China; Boston Children's Hospital, Boston, MA, USA. ^[4] State Key laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: qhzhang@wayenbio.com. ^[5]

关键词 Brachydactyly Exome sequencing Mutation PTHLH gene Signal peptide