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A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
Wang, Jian; Yu, Tingting; Wang, Zhigang; Ohte, Satoshi; Yao, Ru-En; Zheng, Zhaojing; Geng, Juan; Cai, Haiqing; Ge, Yihua; Li, Yuchan; Xu, Yunlan; Zhang, Qinghua; Gusella, James F; Fu, Qihua; Pregizer, Steven; Rosen, Vicki; Shen, Yiping.
Affiliation
  • Wang J; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Yu T; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Wang Z; Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Ohte S; Developmental Biology, Harvard School of Dental Medicine, Boston, MA, USA.
  • Yao RE; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Zheng Z; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Geng J; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Cai H; Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Ge Y; Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Li Y; Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Xu Y; Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Zhang Q; State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Gusella JF; Molecular Neurogenetics Unit and Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Fu Q; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
  • Pregizer S; Developmental Biology, Harvard School of Dental Medicine, Boston, MA, USA.
  • Rosen V; Developmental Biology, Harvard School of Dental Medicine, Boston, MA, USA.
  • Shen Y; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.
J Bone Miner Res ; 31(4): 882-9, 2016 Apr.
Article in En | MEDLINE | ID: mdl-26643732
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Stapes / Synostosis / Foot Deformities, Congenital / Hand Deformities, Congenital / Tarsal Bones / Signal Transduction / Carpal Bones / Carrier Proteins / Bone Morphogenetic Proteins / Mutation, Missense Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: J Bone Miner Res Journal subject: METABOLISMO / ORTOPEDIA Year: 2016 Document type: Article Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Stapes / Synostosis / Foot Deformities, Congenital / Hand Deformities, Congenital / Tarsal Bones / Signal Transduction / Carpal Bones / Carrier Proteins / Bone Morphogenetic Proteins / Mutation, Missense Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: J Bone Miner Res Journal subject: METABOLISMO / ORTOPEDIA Year: 2016 Document type: Article Country of publication: United States