Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series [0.03%]
两项胎儿EFTUD2基因半倍体不足的产前超声和遗传诊断：病例系列报告
Agata Kucińska,Lech Dudarewicz,Beata Anna Nowakowska et al.
Agata Kucińska et al.
Mandibulofacial dysostosis with microcephaly (MFDM) is caused by haploinsufficiency of EFTUD2 gene. This syndrome is characterized by microcephaly, malar and mandibular hypoplasia, ear abnormalities, developmental delay, and intellectual di...
Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent [0.03%]
罕见诊断，熟悉手术——青少年病例的孤立性神经纤维瘤切除术引发NF1筛查
Manal Mubarak Alquaimi
Manal Mubarak Alquaimi
A solitary plexiform neurofibroma in a 15-year-old girl prompted an unexpected referral for neurofibromatosis type 1 (NF1) evaluation. Initially excised under the impression of a lipoma, the lesion's histopathology revealed neural origin fe...
Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement [0.03%]
新型内含子变异IMPG2导致视网膜色素变性伴黄斑受累的假 exon 激活的功能验证
Guobing Zheng,Chenxia Xu,Fenghua Xie et al.
Guobing Zheng et al.
Objective: Retinitis pigmentosa (RP) is a genetically heterogeneous group of inherited retinal dystrophies often accompanied by macular involvement. Variants in IMPG2 are known to cause RP type 56 and vitelliform macular ...
Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) - Case Study [0.03%]
进行性肌营养不良伴发听力、言语和语言障碍的病例分析报告：一名10岁男童FHSD患者案例研究
Emilia Duchnowska,Bożena Kosztyła-Hojna,Maciej Zdrojkowski et al.
Emilia Duchnowska et al.
Purpose: The aim of the study was to evaluate hearing, voice, and speech in 10-year-old boy with fascio-scapulo-humeral dystrophy (FSHD). Patients and met...
TNF-α rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates [0.03%]
越南慢性阻塞性肺疾病患者中TNF-αrs1800629多态性的探索性研究：共显性和临床关联证据
Ha Minh Nguyen,Duong Hoang Huy Le,Tham Thi Hong Ho et al.
Ha Minh Nguyen et al.
Background: Chronic obstructive pulmonary disease (COPD) poses a significant health burden in Vietnam. The TNF-α rs1800629 (-308G/A) polymorphism is an influential factor in disease pathogenesis. However, its association...
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins [0.03%]
LMNA基因R482病理性变异所致的二型常染色体显性遗传部分性脂代谢障碍症候群的多变表现：一位母亲将致病基因同时传给了非同卵双胞胎女儿案例分析
Paola Andrea Duque-Cordoba,Lorena Diaz-Ordoñez,Laura Carvajal-Del-Castillo et al.
Paola Andrea Duque-Cordoba et al.
Familial partial lipodystrophy type 2 (FPLD2), or Dunnigan syndrome, is a rare autosomal dominant disorder caused by mutations in the lamin A (LMNA) gene, most frequently involving the p.R482W variant. It is characterized by regional loss o...
Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis [0.03%]
基因组医学时代的绒毛膜采样：早期个性化产前诊断的途径
Urszula Wysocka,Jolanta Stępniewska,Magdalena Kozłowska et al.
Urszula Wysocka et al.
Purpose: Despite the rapid expansion of noninvasive genomic technologies, invasive procedures such as chorionic villus sampling (CVS) remain indispensable for providing definitive, early prenatal genetic diagnoses. This s...
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases [0.03%]
Charlevoix-Saguenay型脊髓小脑性共济失调的SACS基因新突变及波兰病例总结
Jakub P Fichna,Ewelina Elert-Dobkowska,Wiktoria Radziwonik-Fraczyk et al.
Jakub P Fichna et al.
Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a clinically and genetically heterogeneous neurodegenerative disorder. ARSACS typically manifests as slowly progressive ataxi...
Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China [0.03%]
中国2010年男性不育患者Y染色体微缺失与生育特征相关性研究
Gangxin Chen,Pengyu Huang,Haiyan Li et al.
Gangxin Chen et al.
Objective: To analyze the incidence of different types of Y chromosome microdeletions in infertile male patients in China, and to investigate the relationship between microdeletions in different azoospermia factor (AZF) r...
Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings [0.03%]
全新的平衡易位t（15;21）（q26.3;q22.11）导致的21q部分单体综合征的临床和分子特征分析：病例报告
Somayeh Takrim Nojehdeh,Tannaz Fattahi,Sara Arish et al.
Somayeh Takrim Nojehdeh et al.
Background: Partial monosomy of chromosome 21q is a rare genetic disorder characterized by a wide spectrum of clinical manifestations including intellectual disability, developmental delay, and distinctive craniofacial fe...