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Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel, Nisha; Khan, Arif O; Mansour, Ahmad; Mohamed, Jawahir Y; Al-Assiri, Abdullah; Haddad, Randa; Jia, Xiaofei; Xiong, Yong; Mégarbané, André; Traboulsi, Elias I; Alkuraya, Fowzan S.
Affiliation
  • Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
  • Mansour A; Department of Ophthalmology, American University of Beirut, Beirut 1107-2020, Lebanon.
  • Mohamed JY; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Al-Assiri A; Division of Anterior Segment, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
  • Haddad R; Department of Ophthalmology, American University of Beirut, Beirut 1107-2020, Lebanon.
  • Jia X; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA.
  • Xiong Y; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA.
  • Mégarbané A; Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut 1104-2020, Lebanon.
  • Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
Am J Hum Genet ; 94(5): 755-9, 2014 May 01.
Article in En | MEDLINE | ID: mdl-24768550
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Full text: 1 Database: MEDLINE Main subject: Calcium-Binding Proteins / Ectopia Lentis / Iris / Craniofacial Abnormalities / Mixed Function Oxygenases / Membrane Proteins / Anterior Eye Segment / Muscle Proteins Type of study: Prognostic_studies Limits: Adult / Animals / Female / Humans Language: En Year: 2014 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Calcium-Binding Proteins / Ectopia Lentis / Iris / Craniofacial Abnormalities / Mixed Function Oxygenases / Membrane Proteins / Anterior Eye Segment / Muscle Proteins Type of study: Prognostic_studies Limits: Adult / Animals / Female / Humans Language: En Year: 2014 Type: Article