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Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
Wang, Yu; Zhang, Huiwen; Ye, Jun; Han, Lianshu; Gu, Xuefan.
Affiliation
  • Wang Y; Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Zhang H; Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Ye J; Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Han L; Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Gu X; Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
J Hum Genet ; 59(10): 563-7, 2014 Oct.
Article in En | MEDLINE | ID: mdl-25142510
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Limb Deformities, Congenital / Mutation, Missense / Weill-Marchesani Syndrome / Microfilament Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: China Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Limb Deformities, Congenital / Mutation, Missense / Weill-Marchesani Syndrome / Microfilament Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: China Country of publication: United kingdom