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A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
Lim, Jiin Ying; Bhatia, Neha Singh; Vasanwala, Rashida Farhad; Chay, Pui Ling; Lim, Kevin Boon Leong; Khoo, Poh Choo; Schwarze, Ulrike; Jamuar, Saumya Shekhar.
Affiliation
  • Lim JY; Department of Paediatrics, KK Women's and Children's Hospital.
  • Bhatia NS; Department of Paediatrics, KK Women's and Children's Hospital.
  • Vasanwala RF; Paediatric Academic Medical Programme, Duke-NUS Medical School.
  • Chay PL; Division of Genetics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.
  • Lim KBL; Department of Paediatrics, KK Women's and Children's Hospital.
  • Khoo PC; Paediatric Academic Medical Programme, Duke-NUS Medical School.
  • Schwarze U; Dental Service.
  • Jamuar SS; Department of Orthopedic Surgery.
Clin Dysmorphol ; 28(3): 120-125, 2019 Jul.
Article in En | MEDLINE | ID: mdl-30985308
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Membrane Proteins Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2019 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Membrane Proteins Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2019 Type: Article