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Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.
Tang, Shuo; You, Jieyu; Liu, Li; Ouyang, Hongjuan; Jiang, Na; Duan, Jiaqi; Li, Canlin; Luo, Yanhong; Zhang, Wenting; Zhan, Meizheng; Liu, Chenxi; Lyu, Gui-Zhen; Zhang, Victor Wei; Zhao, Hongmei.
Afiliação
  • Tang S; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • You J; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Liu L; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Ouyang H; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Jiang N; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Duan J; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Li C; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Luo Y; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Zhang W; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Zhan M; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Liu C; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
  • Lyu GZ; AmCare Genomics Lab, Guangzhou, Guangdong, China.
  • Zhang VW; AmCare Genomics Lab, Guangzhou, Guangdong, China.
  • Zhao H; Department of Digestive System Diseases, Hunan Children's Hospital, Changsha, China.
Mol Genet Genomic Med ; 11(8): e2188, 2023 08.
Article em En | MEDLINE | ID: mdl-37488749
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Desnutrição / Oftalmopatias / Deficiência Intelectual Aspecto: Determinantes_sociais_saude Limite: Child / Female / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Desnutrição / Oftalmopatias / Deficiência Intelectual Aspecto: Determinantes_sociais_saude Limite: Child / Female / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article