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Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review

ZNF526新型复合杂合变异导致的牙本质发育不全-Novelli神经发育综合征1例及文献复习

Shaoxin Li,Hui Fang,Hong Li et al.

Molecular genetics & genomic medicine. 2025 Apr;13(4):e70089. DOI:10.1002/mgg3.70089

Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families

线粒体短链烯酰辅酶A水合酶1缺乏症的临床及遗传特征的扩展——两例无关中国家系的研究

Jihua Wu,Xuehui Hu,Zhongli Zhao et al.

Molecular genetics & genomic medicine. 2025 Apr;13(4):e70097. DOI:10.1002/mgg3.70097

A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome

LBWS综合征的婴儿和母亲危险因素的回顾性研究

Denise W Metry,Dawn H Siegel,Kim M Keppler-Noreuil

Molecular genetics & genomic medicine. 2025 Apr;13(4):e70093. DOI:10.1002/mgg3.70093

Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case Report

与横纹肌溶解症相关的OBSCN基因复合杂合变异鉴定：1例报告

Xiaolan Sun,Yong Chen,Jianmin Zhong et al.

Molecular genetics & genomic medicine. 2025 Apr;13(4):e70094. DOI:10.1002/mgg3.70094

A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure

YWHAG基因新突变L173S通过破坏疏水性内部蛋白结构导致发育性和癫痫性脑病

Yuan Jin,Qian Niu,Shan Na Liang et al.

Molecular genetics & genomic medicine. 2025 Apr;13(4):e70079. DOI:10.1002/mgg3.70079

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