Heterozygous CAPZA2mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review

Autor: Zhang, Xiao-Man, Xu, Kai-Li, Kong, Jing-Hui, Dong, Geng, Dong, Shi-Jie, Yang, Zhi-Xiao, Xu, Shu-Jing, Wang, Li, Luo, Shu-Ying, Zhang, Yao-Dong, Zhou, Chong-Chen, Gu, Wei-Yue, Mei, Shi-Yue

Publikováno v: Journal of Human Genetics; 20240101, Issue: Preprints p1-7, 7p

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A child with nail changes

Autor: Qian, Ge, Zhou, Chong-Chen

Publikováno v: BMJ (British Medical Journal); 2017, Vol. 359 Issue: 11 pj5192-j5192, 1p

Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.

Autor: Zhang XM; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Xu KL; Department of Pediatric Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Kong JH; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Dong G; Department of Clinical Laboratory, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Dong SJ; Department of Radiology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Yang ZX; Department of Pediatric Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Xu SJ; Department of Pediatric Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Wang L; Department of Pediatric Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Luo SY; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Zhang YD; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Zhou CC; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China., Gu WY; Chigene Translational Medical Research Center Co. Ltd, Beijing, China., Mei SY; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China. xiaomay2008@163.com.

Publikováno v: Journal of human genetics [J Hum Genet] 2024 May; Vol. 69 (5), pp. 197-203. Date of Electronic Publication: 2024 Feb 19.