[A case of intellectual disability with long QT syndrome by NAA10 gene variation].

Wu, H; Li, B; Hu, X P; Zhang, Y Y; Jiang, J Y; Cheng, X Q; Peng, Q

Wu, H; Li, B; Hu, X P; Zhang, Y Y; Jiang, J Y; Cheng, X Q; Peng, Q.

Afiliação

Wu H; Department of Pediatrics, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital, Chengdu 610072, China.
Li B; Department of Pediatrics, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital, Chengdu 610072, China.
Hu XP; Department of Pediatrics, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital, Chengdu 610072, China.
Zhang YY; Department of Pediatrics, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital, Chengdu 610072, China.
Jiang JY; Department of Pediatrics, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital, Chengdu 610072, China.
Cheng XQ; Department of Pediatrics, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital, Chengdu 610072, China.
Peng Q; Department of Pediatrics, Sichuan Academy of Medical Sciences·Sichuan Provincial People's Hospital, Chengdu 610072, China.

Zhonghua Er Ke Za Zhi ; 62(9): 895-897, 2024 Sep 02.

Article em Zh | MEDLINE | ID: mdl-39192452

Assuntos

Eletrocardiografia; Deficiência Intelectual; Síndrome do QT Longo; Mutação; Acetiltransferase N-Terminal A; Acetiltransferase N-Terminal E; Humanos; Síndrome do QT Longo/genética; Síndrome do QT Longo/diagnóstico; Deficiência Intelectual/genética; Criança; Acetiltransferase N-Terminal E/genética; Acetiltransferase N-Terminal A/genética; Masculino; Propranolol/uso terapêutico; Éxons; Heterozigoto; Feminino

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Eletrocardiografia / Acetiltransferase N-Terminal A / Acetiltransferase N-Terminal E / Deficiência Intelectual / Mutação Limite: Child / Female / Humans / Male Idioma: Zh Revista: Zhonghua Er Ke Za Zhi Ano de publicação: 2024 Tipo de documento: Article

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