Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.

Yi, Zhi; Zhang, Ying; Song, Zhenfeng; Pan, Hong; Yang, Chengqing; Li, Fei; Xue, Jiao; Qu, Zhenghai

Yi, Zhi; Zhang, Ying; Song, Zhenfeng; Pan, Hong; Yang, Chengqing; Li, Fei; Xue, Jiao; Qu, Zhenghai.

Afiliación

Yi Z; Department of Pediatric, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China.
Zhang Y; Department of Pediatric, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China.
Song Z; Department of Pediatric, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China.
Pan H; Department of Central Laboratory, Peking University First Hospital, Beijing, China.
Yang C; Department of Pediatric, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China.
Li F; Department of Pediatric, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China.
Xue J; Department of Pediatric, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China.
Qu Z; Department of Pediatric, The Affiliated Hospital of Qingdao University, Qingdao, 266003, Shandong, China. quzhenghai@163.com.

Ital J Pediatr ; 46(1): 95, 2020 Jul 09.

Article en En | MEDLINE | ID: mdl-32646507

Asunto(s)

Anomalías Múltiples/genética; Discapacidad Intelectual/genética; Complejo Mediador/genética; Mutación Missense/genética; Preescolar; China; Femenino; Humanos

Palabras clave

Intellectual disability; MED13L; Missense mutation; Speech impairment

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Mutación Missense / Complejo Mediador / Discapacidad Intelectual Límite: Child, preschool / Female / Humans País/Región como asunto: Asia Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

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