Lessons learned from the RE(ACT) conference on medical devices for rare diseases [0.03%]
关于罕见病医疗设备的RE(ACT)大会经验教训
Anneliene H Jonker,Tim Buckinx,Lucia Pannese et al.
Anneliene H Jonker et al.
The field of rare disease therapeutics has witnessed significant growth in recent years, highlighting the need for diverse therapeutic approaches to cater to the unique needs of individuals with rare diseases. Rare disease therapies encompa...
A novel germline Pregnane X Receptor (PXR) variant predisposing to Hodgkin lymphoma in two siblings [0.03%]
两兄弟姐妹中导致霍奇金淋巴瘤的新颖的生殖系孕烷X受体(PXR)变异体
Khusan Khodzhaev,Tugce Sudutan,Yucel Erbilgin et al.
Khusan Khodzhaev et al.
Hodgkin's lymphoma (HL) is the most common cancer in adolescents and young adults. A family history of HL increases the risk of developing HL in other family members. Identification of genetic predisposition variants in HL is important for ...
ITGB4-Related pyloric atresia without epidermolysis in two siblings [0.03%]
两兄弟姐妹中与ITGB4有关的幽门闭锁症（无皮肤脆性）
Lamiya Aliyeva,Serdar Beken,Hanifenur Mancilar et al.
Lamiya Aliyeva et al.
Pyloric atresia is a rare gastrointestinal anomaly with an incidence of 1/100,000 in live births. It is usually seen as an isolated condition or in combination with other congenital or hereditary anomalies. Autosomal recessive inherited eit...
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes [0.03%]
探索克里夫斯塩综合征队列表型特征：从照料者报告结果中获得的患病率见解
Tanja Zdolšek Draksler,Arianne Bouman,Alenka Guček et al.
Tanja Zdolšek Draksler et al.
Kleefstra syndrome (KLEFS1) is a rare genetic neurodevelopmental disorder affecting multiple body systems. It continues to be under-researched, and its prevalence remains unknown. This paper builds on the international KLEFS1 cohort of 172 ...
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3 [0.03%]
MATN3血管假性血友病生长因子结构域的复合杂合突变导致两个家系的脊柱-内脏-代谢畸形综合征
Tae-Joon Cho,Hyeran Lee,Jung Min Ko et al.
Tae-Joon Cho et al.
Heterozygous variants of MATN3 is one of the common causes of multiple epiphyseal dysplasia (MED). Here we report three individuals from two unrelated families who harbor compound heterozygous variants in MATN3 (p.Arg121Trp and p.Val220Ala)...
Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania [0.03%]
坦桑尼亚两兄弟姐妹患肾母细胞瘤的新型CTR9致病性剪切位点变异
Ali Iman,Esther Majaliwa,Lossim G Kambainei et al.
Ali Iman et al.
Wilms tumor is the most common childhood renal malignancy. Though mostly non-genetic, it can be syndromic with the involvement of many Wilms tumor predisposing genes and non-syndromic with the involvement of four genes: WT1, REST, TRIM28, a...
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing - A modeling study based on real-world data [0.03%]
基于真实世界数据的癌症患者历史NHS诊断遗传基因检测扩展面板分析的经济评价-一项建模研究
Qin Xi,Rahul Patel,Thomas Linton-Willoughby et al.
Qin Xi et al.
Background: The South West Thames Centre for Genomics implemented a wider diagnostic Next Generation Sequencing (NGS) gene panel for eligible cancer patients undergoing diagnostic testing whilst restricting data analysis ...
Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study [0.03%]
伊朗酪氨酸血症I型突变谱系的回顾性队列研究
Zahra Beyzaei,Zahra Goudarzi,Seyed Mohsen Dehghani et al.
Zahra Beyzaei et al.
Hereditary Tyrosinemia Type 1 (HT1) is a genetic disorder characterized by an autosomal recessive inheritance pattern, caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, which results in a deficiency of fumarylacetoacetase...
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy [0.03%]
TAF1A基因双等位潜在致病错义变异导致两名兄弟姐妹患婴儿限制型心肌病
Nan Jiang,Wenyuan Xu,Aliaa Abdelhakim et al.
Nan Jiang et al.
TAF1A, a gene encoding a TATA-box binding protein involved in ribosomal RNA synthesis, is a candidate gene for pediatric cardiomyopathy as biallelic TAF1A variants were reported in two families with affected individuals. Here, we report a t...
Digital clubbing without hypoxia for lysinuric protein intolerance [0.03%]
低氧环境下蛋白耐受性缺乏的数字俱乐部无โรงพยา验结果
Daisuke Watanabe,Yuko Tsujioka,Daisuke Nakato et al.
Daisuke Watanabe et al.
Digital clubbing is characterized by bulbous enlargement of the terminal segments of the fingers. Hypotheses including hypoxia have been proposed for the pathogenesis of digital clubbing, but the exact pathogenesis of digital clubbing is st...