The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion [0.03%]
掩藏的海洋性贫血：一例血红蛋白A2水平正常、β-珠蛋白生成障碍性贫血致病突变（CD39 C>T）及新型δ-球蛋白基因缺失患者的罕见病例报告
Massimiliano Chetta,Annamaria Salamandra,Marina Tarsitano et al.
Massimiliano Chetta et al.
Thalassemia is a group of inherited blood disorders caused by defects in hemoglobin production, the protein that transports oxygen in red blood cells. These diseases are characterized by either diminished or missing production of one of the...
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future [0.03%]
沙特阿拉伯非侵入性产前检测的现状及未来规划路径分析
Majid Alfadhel,Amal AlHashem,Wesam Kurdi et al.
Majid Alfadhel et al.
Background: Non-invasive prenatal testing (NIPT) has emerged as a significant advancement in prenatal screening that offers safer and more accurate detection of chromosomal abnormalities compared to conventional methods. ...
Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy [0.03%]
一个家族扩张型心肌病的TTN基因内缺失突变分析
Marketa Wayhelova,Petra Peldova,Alice Krebsova et al.
Marketa Wayhelova et al.
The TTN gene (MIM:188840) encodes titin, the largest human protein with exclusive expression in the cardiac and skeletal muscles. Rare variants disrupting the TTN gene are frequent causes of dilated cardiomyopathy and several forms of skele...
Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes [0.03%]
家族性3M综合征——罕见遗传性综合征诊断困难的例子
Magdalena Pasińska,Joanna M Rusecka,Agnieszka Sobczyńska-Tomaszewska et al.
Magdalena Pasińska et al.
Introduction: A lack of experience diagnosing and treating rare diseases contributes to delayed or incorrect diagnoses, and optimal clinical treatment is often unachievable. Miller-McKusick-Malvaux syndrome (3M syndrome, ...
Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature [0.03%]
3M综合征的外显子组测序分析及临床特征研究和文献复习
Xiao-Li Chen,Dai-Shan Zheng,Yi-Fan Shen et al.
Xiao-Li Chen et al.
Background: 3M syndrome is a rare autosomal recessive genetic disorder characterized by significant intrauterine and postnatal growth restriction. There is limited research on its genetic basis within the Chinese populati...
Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency [0.03%]
IL2RG基因杂合变异通过干扰IL-2诱导的STAT5磷酸化和转录活性导致X连锁严重联合免疫缺陷症
Ning Zhang,Yi-Lin Sang,Wu Zhu et al.
Ning Zhang et al.
Purpose: X-linked severe combined immunodeficiency (X-SCID) is an inherited immune disorder caused by pathogenic variants in the IL2RG gene, leading to recurrent infections. Identifying these variants and elucidating thei...
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family [0.03%]
在一个高度同质的家庭中检测到与齐勒-格墨病相关的新发PEX5终止密码子丢失纯合突变
Ingrid Tatyana Bernal-Bonilla,Juan Sebastian Arias-Florez,Sandra Ximena Ramirez et al.
Ingrid Tatyana Bernal-Bonilla et al.
Zellweger syndrome (ZS) is a heterogeneous group of clinical conditions that commonly manifest with neurodevelopmental delay, multiple neurological abnormalities, visual and auditory impairments, and adrenocortical dysfunction. ZS is an aut...
Differential Responses to Targeted Therapies in Non-Small Cell Lung Cancer: A Comparative Analysis of Outcomes in Patients with Single EGFR Mutation and Concurrent Gene Alterations [0.03%]
非小细胞肺癌靶向治疗的差异性反应：EGFR单一基因突变与合并其他基因改变患者的预后比较分析
Linh Tu Le,Nhung Viet Nguyen,Huy Le Trinh et al.
Linh Tu Le et al.
Background: Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) improve the quality of life in individuals with EGFR mutation-positive non-small cell lung cancer (NSCLC). This study evaluates the treat...
A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report" [0.03%]
一个携带地中海发热（FMF）独特复杂变异谱系的患者：E148Q-P369S-R408Q三重纯合子-"案例报告"
Nour Abi Chakra,Nadine Yazbeck,Mohammad Omar Fattah et al.
Nour Abi Chakra et al.
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder resulting in recurrent fever, polyserositis, and arthralgias. It is caused by mutations in the MEFV (Mediterranean Fever) gene. We report a Lebanese pediatric pati...
Long-Term Donor Chimerism Monitoring for Relapse Risk Assessment After Pediatric Allo-HSCT [0.03%]
儿童allo-hsct后长期供体嵌合体监测以评估复发风险
Anna Prażmo,Paulina Skowera,Agnieszka Zaucha-Prazmo et al.
Anna Prażmo et al.
Objective: Allo-HSCT is a well-established treatment for several hematological malignancies. Relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains a significant problem and is associated wit...