Exploring National Support Mechanisms for European Reference Network Centres [0.03%]
探索欧洲参考网络中心的国家支持机制
Vojtěch Šimka,Jana Jedličková,Nela Navrátilová et al.
Vojtěch Šimka et al.
Integrating European Reference Networks (ERNs) into national health systems is crucial for rare disease care but remains challenging due to inconsistent support structures across countries. This study used a 2024-2025 multi-stakeholder surv...
Developing consensus on rare disease care pathways and ERN integration across Europe: insights from stakeholder workshops and a Delphi study [0.03%]
欧洲罕见疾病诊疗路径和ERN整合的共识发展：来自利益相关者研讨会和德尔菲研究的见解
Augutė Juozapavičiūtė-Dvinelė,Michel W P Tsang-A-Sjoe,Madara Auzenbaha et al.
Augutė Juozapavičiūtė-Dvinelė et al.
Background: Rare disease care pathways are complex and require coordination among specialised and non-specialised services, including genetic diagnostics, multidisciplinary expertise, and cross-border collaboration. Despi...
Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia [0.03%]
婴儿期起病的纤维肌发育不良迅速进展为血管病变
Eriko Hatai,Yuri Sonoda,Motoshi Sonoda et al.
Eriko Hatai et al.
Background: Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disease that predominantly affects renal and cerebral vessels, causing renovascular hypertension and stroke. Because FMD occurs extremely rarely ...
Neurofibromatosis Type 1 in Brazil: Pediatric Care in the Unified Health System [0.03%]
巴西NF1患儿的公共卫生系统护理
Viviane Sonaglio,Gabriela Oigman Bellas,Eliana Maria Monteiro Caran et al.
Viviane Sonaglio et al.
Aim: To describe the demographic characteristics and outpatient and inpatient procedures experienced by pediatric patients with neurofibromatosis type 1 (NF1) in the Unified Health System (SUS). ...
Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability [0.03%]
新型HUWE1变异在特纳型X连锁智障中的识别
Jingjing Zhang,Jing He,Hairui Pan et al.
Jingjing Zhang et al.
Objective: To characterize the clinical phenotypes and identify the genetic etiology in four unrelated families affected by Turner-type X-linked intellectual disability (XLID). ...
Cytogenetics of Shwachman Diamond syndrome: 27 years report of the Italian cohort and review of the literature [0.03%]
舒瓦茨曼-钻石综合征细胞遗传学：意大利队列27年报告及文献综述
Giovanni Micheloni,Annalisa Frattini,Giuseppe Montalbano et al.
Giovanni Micheloni et al.
Shwachman-Diamond syndrome (SDS1) is an autosomal recessive disorder principally characterized by exocrine pancreatic insufficiency, a mild to severe bone marrow failure, peripheral blood cytopenias and an increased risk of developing myelo...
Smith-Kingsmore syndrome associated neurovascular complications and stroke: report of two cases [0.03%]
史密斯-金斯莫综合征相关的神经血管并发症及卒中：2例报告
Eoin P Donnellan,Erin L Langton,Ailbhe Moran et al.
Eoin P Donnellan et al.
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature [0.03%]
两个新的脆性X染色体综合征非CGG三核苷酸重复扩张病例的临床分子特征及文献综述
Giulia Lauretti,Roberta Pietrobono,Benedetta Niccolini et al.
Giulia Lauretti et al.
Fragile X syndrome (FXS) is classically caused by CGG repeat expansion in the FMR1 gene leading to gene silencing. We describe two unrelated patients with clinical features consistent with FXS but harbouring distinct molecular mechanisms. T...
New insights into the complex genetic architecture of age-related hearing loss [0.03%]
老年性听力损失复杂遗传架构的新见解
Crystel Bonnet,Salim Aiche,Sophie Boucher
Crystel Bonnet
Age-related hearing loss (ARHL), or presbycusis, is a very common sensory disorder resulting from cumulative exposure to environmental factors, biological aging and a significant genetic component. Although most cases of ARHL result from th...
Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin [0.03%]
20例韩国籍TRPSⅠ/Ⅲ型临床及基因型研究
Ayoung Park,Naye Choi,Tae-Joon Cho et al.
Ayoung Park et al.
Background: Trichorhinophalangeal syndrome type I/III (TRPS I/III) is a rare autosomal dominant skeletal dysplasia caused by pathogenic variants of TRPS1. Although several European cohorts have been reported, data from Ea...