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An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia.
Xu, Ting; Shi, Liang; Dai, Weiqian; Gu, Xuefan; Yu, Yongguo; Fan, Yanjie.
Affiliation
  • Xu T; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.
  • Shi L; Clinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.
  • Dai W; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.
  • Gu X; Clinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.
  • Yu Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.
  • Fan Y; Clinical Genetics Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.
J Pediatr Endocrinol Metab ; 34(10): 1323-1328, 2021 Oct 26.
Article in En | MEDLINE | ID: mdl-34162030
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / RNA Splicing / Receptor, Fibroblast Growth Factor, Type 3 Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Child, preschool / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / RNA Splicing / Receptor, Fibroblast Growth Factor, Type 3 Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Child, preschool / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2021 Document type: Article Affiliation country: Country of publication: