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Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
Wang, Jiaping; Zhang, Qingping; Chen, Yan; Yu, Shujie; Wu, Xiru; Bao, Xinhua; Wen, Yongxin.
Afiliación
  • Wang J; Department of Pediatrics, Peking University First Hospital, No 1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.
  • Zhang Q; Department of Pediatrics, Peking University First Hospital, No 1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.
  • Chen Y; Department of Pediatrics, Peking University First Hospital, No 1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.
  • Yu S; Department of neurology, Harbin children's hospital, Harbin, 150010, Heilongjiang Province, China.
  • Wu X; Department of Pediatrics, Peking University First Hospital, No 1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.
  • Bao X; Department of Pediatrics, Peking University First Hospital, No 1, Xi'anmen Street, Xicheng District, Beijing, 100034, China. zwhang@pku.eud.cn.
  • Wen Y; Department of Pediatrics, Peking University First Hospital, No 1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.
BMC Med Genet ; 19(1): 191, 2018 10 30.
Article en En | MEDLINE | ID: mdl-30376817

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Mutación Puntual / Estudios de Asociación Genética / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Rett / Mutación Puntual / Estudios de Asociación Genética / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China
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