Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.

Zhang, Xuemin; Wang, Yajian; Yang, Fang; Tang, Jiulai; Xu, Xiaoyan; Yang, Li; Yang, Xiu-An; Wu, De

Zhang, Xuemin; Wang, Yajian; Yang, Fang; Tang, Jiulai; Xu, Xiaoyan; Yang, Li; Yang, Xiu-An; Wu, De.

Afiliación

Zhang X; The Children's Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, 230022, People's Republic of China.
Wang Y; Beijing Chigene Translational Medicine Research Center Co., Ltd., Beijing, 100875, People's Republic of China.
Yang F; School of Basic Medical Science, Chengde Medical University, Anyuan Road, Chengde, 067000, People's Republic of China.
Tang J; The Children's Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, 230022, People's Republic of China.
Xu X; The Children's Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, 230022, People's Republic of China.
Yang L; The Children's Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, 230022, People's Republic of China.
Yang XA; School of Basic Medical Science, Chengde Medical University, Anyuan Road, Chengde, 067000, People's Republic of China. yangxiuan07@mails.ucas.edu.cn.
Wu; The Children's Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, 230022, People's Republic of China. derk_wu@163.com.

J Mol Neurosci ; 70(1): 1-8, 2020 Jan.

Article en En | MEDLINE | ID: mdl-31428919

Asunto(s)

Discapacidad Intelectual/genética; Anomalías Musculoesqueléticas/genética; Mutación; Trastornos del Neurodesarrollo/genética; Proteína Wnt1/genética; Niño; Femenino; Humanos; Discapacidad Intelectual/patología; Masculino; Anomalías Musculoesqueléticas/patología; Trastornos del Neurodesarrollo/patología; Fenotipo; Hermanos; Síndrome

Palabras clave

CCFDN; CTDP1; INTS1; INTS8; Neurodevelopmental disorder; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteína Wnt1 / Trastornos del Neurodesarrollo / Discapacidad Intelectual / Anomalías Musculoesqueléticas / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: J Mol Neurosci Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos

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