Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report [0.03%]
关于POMGNT1相关肌眼脑病的基因型谱系扩展的病例报告
Evripidis Pityrigkas,Vasiliki Poulidou,Stefania Kalampokini et al.
Evripidis Pityrigkas et al.
Background: Muscle-Eye-Brain disease (MEB) is a rare autosomal recessive dystroglycanopathy caused by defective glycosylation of α-dystroglycan, leading to a multisystem disorder involving the central nervous system, ske...
The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation [0.03%]
MC4R基因变异所致单基因非综合征性肥胖的临床表型及遗传分析
Xin Li,Xiaotian Wang,Xin Liu et al.
Xin Li et al.
Objective: The objective of this study was to investigate the clinical features and genetic variation of a patient with monogenic nonsyndromic obesity caused by melanocortin 4 receptor (MC4R) gene variation. Additionally,...
Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis [0.03%]
CTU2罕见biallelic变异的单基因CAKUT家系：临床特征及小基因剪接分析
Qian Liu,Xueqin Cheng,Bixia Zheng et al.
Qian Liu et al.
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are clinically heterogeneous and remain genetically unexplained in many patients. Biallelic variants in CTU2 have been reported in DREAM-PL syndrome...
Multifocal Sporadic Venous Malformations in a Child Caused by a Novel Somatic Double Mutation of the TEK Gene: A Case Report and Literature Review [0.03%]
TEK基因新型双突变所致儿童多发性散发性静脉畸形1例报告及文献复习
Lu Liu,Yidan Cao,Yunhua Zheng et al.
Lu Liu et al.
Background: Multifocal sporadic venous malformations (MSVM) are a rare and severe subtype of venous malformations (VMs). Although somatic mutations in the TEK gene are frequently implicated in VMs, the clinical and molecu...
Prenatal Etiology Diagnosis of Rare Compound Heterozygous PROC Gene Variants in a Fetus With Ocular Ultrasonic Anomaly Using Whole Exome Sequencing [0.03%]
采用全外显子组测序技术诊断罕见复合杂合PROC基因变异的胎儿眼部超声异常产前病因学
Jianlong Zhuang,Nan Huang,Ling Gu et al.
Jianlong Zhuang et al.
Background: This study aims to present novel compound heterozygous PROC gene variants in a fetus. These variants cause protein C deficiency-associated thrombophilia and are accompanied by prenatal ocular anomalies in the ...
Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population [0.03%]
中国人群DNAAF1基因突变所致假显性常染色体遗传原发纤毛运动障碍家系临床及遗传分析
Zhuoyao Guo,Ping Li,Gaoli Jiang et al.
Zhuoyao Guo et al.
Background: Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal recessive pattern. Pseudo-dominant inheritance is exceptionally uncommon and remains poorly ch...
A Synonymous DLG4 Variant (c.771G>A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4-Related Synaptopathy [0.03%]
DLG4相关联突触病由于父系生殖细胞嵌合造成的DLG4同义变异(c.771G>A)导致外显子9跳跃
Jing Chen,Qinfei Zhao,Xinyue Zhang et al.
Jing Chen et al.
Background: The synonymous DLG4 variant is annotated with conflicting pathogenicity interpretations, and its molecular mechanism remains uncharacterized. Paternal germline mosaicism has been inferred but never molecularly...
A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings [0.03%]
卡塔尔婴儿中致死性心肌病和难治性严重乳酸酸中毒的ELAC2纯合子变异：临床、心脏和分子发现的回顾性研究
Hind Alsharhan,Worood Alostad,Alshaymaa A Ali et al.
Hind Alsharhan et al.
Background: Infantile-onset cardiomyopathy due to mitochondrial dysfunction is a severe condition frequently associated with poor prognosis. Biallelic pathogenic variants in ELAC2, an essential mitochondrial tRNA processi...
Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025 [0.03%]
2000至2025年Alport综合征的知识图谱：文献计量分析
Xiujuan Cao,Wei Zhou,Yong Wang et al.
Xiujuan Cao et al.
Background: Alport syndrome (AS) is a multisystem hereditary disorder characterized by persistent hematuria, progressive renal insufficiency, sensorineural hearing loss, and ocular abnormalities. Its pathogenesis is mainl...
Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study [0.03%]
MC2R基因的新突变在家族性糖皮质激素缺乏症患者中的研究：病例报告和功能研究
Ni Zhen,Yonghui Tao,Chuanyin Li et al.
Ni Zhen et al.
Purpose: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to adrenocorticotropic hormone (ACTH), leading to isolated glucocorticoid deficiency. This study aims to...