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Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Xin, Chengqi; Wang, Chun; Wang, Yachen; Zhao, Jingyuan; Wang, Liang; Li, Runjie; Liu, Jing.
Afiliação
  • Xin C; Stem Cell Clinical Research Center, National Joint Engineering Laboratory, the First Affiliated Hospital of Dalian Medical University, No. 193, Lianhe Road, Xigang District, Dalian, Liaoning Province, 116011, China.
  • Wang C; Department of Neurology, the Second Affiliated Hospital of Dalian Medical University, No.467, Zhongshan Road, Shahekou District, Dalian, Liaoning Province, 116027, China.
  • Wang Y; Stem Cell Clinical Research Center, National Joint Engineering Laboratory, the First Affiliated Hospital of Dalian Medical University, No. 193, Lianhe Road, Xigang District, Dalian, Liaoning Province, 116011, China.
  • Zhao J; Stem Cell Clinical Research Center, National Joint Engineering Laboratory, the First Affiliated Hospital of Dalian Medical University, No. 193, Lianhe Road, Xigang District, Dalian, Liaoning Province, 116011, China.
  • Wang L; Stem Cell Clinical Research Center, National Joint Engineering Laboratory, the First Affiliated Hospital of Dalian Medical University, No. 193, Lianhe Road, Xigang District, Dalian, Liaoning Province, 116011, China.
  • Li R; Department of Rehabilitation, Dalian Municipal Women and Children's Medical Center, No.1,No.3 of Guihuayihao Road, Ganjingzi District, Dalian, Liaoning Province, 116000, China.
  • Liu J; Stem Cell Clinical Research Center, National Joint Engineering Laboratory, the First Affiliated Hospital of Dalian Medical University, No. 193, Lianhe Road, Xigang District, Dalian, Liaoning Province, 116011, China. liujing@dmu.edu.cn.
BMC Med Genet ; 19(1): 31, 2018 02 27.
Article em En | MEDLINE | ID: mdl-29482518
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Proteínas de Ligação a DNA / Face / Doenças Hematológicas / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Proteínas de Ligação a DNA / Face / Doenças Hematológicas / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article