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UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate
Author: Kong, Ying; Ye, Chaoqun; Shi, Leyang; Dai, Qingmei; Wang, Ying; Hu, Jun; Wu, Xueyan; Shi, Meiyu; Hu, Xiaofeng; Huang, Huizhi
Journal: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023; Vol. 66, Issue 2, pp. -. DOI: 10.1016/j.ejmg.2022.104693
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Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review
Author: Yu, Chaonan; Lyn, Nan; Li, Dongxiao; Mei, ShiYue; Liu, Lei; Shang, Qing
Journal: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023; Vol. 66, Issue 1, pp. -. DOI: 10.1016/j.ejmg.2022.104675
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SMAD4 loss-of-function mutation predisposes to congenital heart disease
Author: Wang, Yin; Xu, Ying-Jia; Yang, Chen-Xi; Huang, Ri-Tai; Xue, Song; Yuan, Fang; Yang, Yi-Qing
Journal: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023; Vol. 66, Issue 1, pp. -. DOI: 10.1016/j.ejmg.2022.104677
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VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy
Author: Shi, Hong-Yu; Xie, Meng-Shi; Guo, Yu-Han; Yang, Chen-Xi; Gu, Jia-Ning; Qiao, Qi; Di, Ruo-Min; Qiu, Xing-Biao; Xu, Ying-Jia; Yang, Yi-Qing
Journal: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023; Vol. 66, Issue 3, pp. -. DOI: 10.1016/j.ejmg.2023.104705
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Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13
Author: Geng, Wenjin; Li, Fuwei; Zhang, Ruoxuan; Cao, Lijing; Du, Xilong; Gu, Weiyue; Xu, Meixian
Journal: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023; Vol. 66, Issue 3, pp. -. DOI: 10.1016/j.ejmg.2023.104711
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Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review
Author: Zhong, Fazhan; Tan, Mei; Gao, Yan
Journal: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023; Vol. 66, Issue 6, pp. -. DOI: 10.1016/j.ejmg.2023.104753
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A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family
Author: Lijian Xie, Cuilan Hou, Xunwei Jiang, Jian Zhao, Yun Li, Tingting Xiao
Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.018
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Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy
Author: Kun Li, Runming Jin, Xiaoyan Wu
Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.013
