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The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review
Author: Wu, Wenyong; Chen, Ruimin
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 1, pp. -. DOI: 10.1002/mgg3.2066
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A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy
Author: Zhong, Junwei; Shi, Jie; Zhang, Xiaotian; Xu, Ke; Zhang, Xiaohui; Xie, Yue; Li, Yang
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 2, pp. -. DOI: 10.1002/mgg3.2083
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Association of demographic and clinical factors with risk of acute pancreatitis: An exposure-wide Mendelian randomization study
Author: Tang, Qiu-Yi; Yang, Qi; Yu, Xian-Qiang; Liu, Yu-Xiu; Tong, Zhi-Hui; Li, Bai-Qiang; Chen, Ya-Ting; Yu, Evan Yi-Wen; Li, Wei-Qin
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 1, pp. -. DOI: 10.1002/mgg3.2091
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Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome
Author: Li, Shan; Yu, Shunan; Zhang, Yanzhuo; Wang, Ying; Jiang, Xu; Wu, Chengai
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 1, pp. -. DOI: 10.1002/mgg3.2092
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Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
Author: Huang, Yazhou; Ma, Linya; Zhang, Zhaoxia; Nie, Shujuan; Zhou, Yuan; Zhang, Jibo; Wang, Chao; Fang, Xingxin; Quan, Yingting; He, Ting; Liu, Anhui; Peng, Dan
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 2, pp. -. DOI: 10.1002/mgg3.2100
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The compound heterozygous mutations of c.607G > a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)
Author: Chi, Huan; Gan, Chun; Jiang, Yaru; Chen, Dan; Qiu, Jiawen; Yang, Qing; Chen, Yaxi; Wang, Mo; Yang, Haiping; Jiang, Wei; Li, Qiu
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 1, pp. -. DOI: 10.1002/mgg3.2090
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A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4
Author: Yang, Kun; Wang, Xi; Wang, Wei-Qian; Han, Ming-Yu; Hu, Li-Min; Kang, Dong-Yang; Yang, Jin-Yuan; Liu, Min; Gao, Xue; Yuan, Yong-Yi; Xu, Jin-Cao
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 3, pp. -. DOI: 10.1002/mgg3.2103
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BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
Author: Yang, Shangying; Li, Zhen; Cheng, Wanyu; Ma, Meijiao; Qi, Rui; Rui, Xue; Ren, Yinghua; Sheng, Xunlun; Rong, Weining
Journal: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023; Vol. 11, Issue 1, pp. -. DOI: 10.1002/mgg3.2095
