Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.

Zhu, Dengna; Wang, Mingmei; Xu, Yiran; Zhang, Jiamei; Yang, Fan; Yang, Zuozhen

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.

Zhu, Dengna; Wang, Mingmei; Xu, Yiran; Zhang, Jiamei; Yang, Fan; Yang, Zuozhen.

Afiliación

Zhu D; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China. zhudengna@126.com.
Wang M; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China.
Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China.
Zhang J; Commission Key Laboratory of Birth Defects Prevention, Henan Key Laboratory of Population Defects Prevention, Zhengzhou, 450052, China.
Yang F; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China.
Yang Z; Cipher Gene LLC, Beijing, 100080, China.

Neurogenetics ; 23(3): 179-185, 2022 07.

Article en En | MEDLINE | ID: mdl-35391588

Asunto(s)

Subunidades sigma de Complejo de Proteína Adaptadora; Discapacidad Intelectual; Discapacidad Intelectual Ligada al Cromosoma X; Subunidades sigma de Complejo de Proteína Adaptadora/genética; Enfermedades de los Ganglios Basales; Síndrome de Dandy-Walker; Genes Ligados a X; Humanos; Discapacidad Intelectual/diagnóstico; Discapacidad Intelectual/genética; Masculino; Discapacidad Intelectual Ligada al Cromosoma X/genética; Linaje; Convulsiones

Palabras clave

AP1S2; Whole-exome sequencing; XLID

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Subunidades sigma de Complejo de Proteína Adaptadora / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: China

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