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Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children.
Du, Caiqi; Li, Zhuoguang; Zou, Biao; Li, Xuesong; Chen, Fan; Liang, Yan; Luo, Xiaoping; Shu, Sainan.
Afiliação
  • Du C; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Li Z; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Zou B; Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, China.
  • Li X; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Chen F; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Liang Y; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Luo X; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Shu S; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mol Genet Genomic Med ; 11(9): e2192, 2023 09.
Article em En | MEDLINE | ID: mdl-37162176
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi Idioma: En Ano de publicação: 2023 Tipo de documento: Article