A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.

Wu, Sixian; Jiang, Chuan; Li, Jiaman; Zhang, Guohui; Shen, Ying; Wang, Jing

Wu, Sixian; Jiang, Chuan; Li, Jiaman; Zhang, Guohui; Shen, Ying; Wang, Jing.

Afiliación

Wu S; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Jiang C; West China School of Pharmacy, Sichuan University, Chengdu, 610041, People's Republic of China.
Li J; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Zhang G; West China School of Pharmacy, Sichuan University, Chengdu, 610041, People's Republic of China.
Shen Y; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
Wang J; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China. yingcaishen01@163.com.

BMC Med Genomics ; 15(1): 127, 2022 06 06.

Article en En | MEDLINE | ID: mdl-35668446

Asunto(s)

Discapacidad Intelectual; Microcefalia; Aminoácidos/genética; Cerebelo/anomalías; Discapacidades del Desarrollo/complicaciones; Discapacidades del Desarrollo/genética; Femenino; Guanilato-Quinasas/química; Guanilato-Quinasas/genética; Humanos; Lactante; Discapacidad Intelectual/complicaciones; Discapacidad Intelectual/genética; Discapacidad Intelectual Ligada al Cromosoma X; Microcefalia/complicaciones; Microcefalia/genética; Malformaciones del Sistema Nervioso; Fenotipo

Palabras clave

CASK; Case report; MICPCH; Missense variant; Protein structure

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual / Microcefalia Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Infant Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido

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