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A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
Xu, Na; Lv, Hui; Yang, Tingting; Du, Xiujuan; Sun, Yu; Xiao, Bing; Fan, Yanjie; Luo, Xiaomei; Zhan, Yongkun; Wang, Lili; Li, Fei; Yu, Yongguo.
Afiliação
  • Xu N; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Lv H; Department of Developmental and Behavioral Pediatrics, Department of Child Primary Care, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong Univer
  • Yang T; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Du X; Department of Developmental and Behavioral Pediatrics, Department of Child Primary Care, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong Univer
  • Sun Y; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Xiao B; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Fan Y; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Luo X; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Zhan Y; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Wang L; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
  • Li F; Department of Developmental and Behavioral Pediatrics, Department of Child Primary Care, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong Univer
  • Yu Y; Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Room 801, Science and Education Building, Kongjiang Road 1
Orphanet J Rare Dis ; 15(1): 335, 2020 11 30.
Article em En | MEDLINE | ID: mdl-33256793
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Reino Unido