Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND [0.03%]
成人骨硬化症及相关破骨细胞异常的回顾与知识空白欧洲钙化组织学会和ERN BOND的委托发布
Thomas Funck-Brentano,M Carola Zillikens,Gavin Clunie et al.
Thomas Funck-Brentano et al.
Osteopetrosis refers to a group of related rare bone diseases characterized by a high bone mass due to impaired bone resorption by osteoclasts. Despite the high bone mass, skeletal strength is compromised and the risk of fracture is high, p...
The history of the international rare diseases research consortium (IRDiRC) and its conferences [0.03%]
国际罕见病研究联盟（IRDiRC）及其会议的历程
David A Pearce
David A Pearce
Individual researchers and consortia have been studying rare diseases for several decades. However, the rare disease community can be very fragmented mainly due to the large heterogeneity of rare diseases. Indeed, for many diseases, there i...
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant [0.03%]
Lithuania首例由NOTCH2基因可能致病突变引起的Hajdu Cheney综合征病例
Ieva Tėvelytė,Paulius Bertašius,Kristina Aleknavičienė et al.
Ieva Tėvelytė et al.
Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder. The prevalence rate of less than 1 case per 1,000,000 newborns and only 50 cases were reported in the medical literature. HCS is characterized by progres...
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants [0.03%]
15例_TRIPS综合征患者的临床表型及遗传特征分析：7种新型TRPS1变异型
Laura Krogh Herlin,Morten Krogh Herlin,Jenny Blechingberg et al.
Laura Krogh Herlin et al.
Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused by pathogenic variants in TRPS1 and TRPS type II cau...
Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta [0.03%]
马耳他常染色体显性遗传多囊肾病的基因型与表现型
Natalie Ciantar,Graziella Zahra,Julian Delicata et al.
Natalie Ciantar et al.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple renal cysts causing kidney enlargement and end-stage renal disease (ESRD) in half the patients by 60 years o...
Penetrance, variable expressivity and monogenic neurodevelopmental disorders [0.03%]
穿透率，可变表达性和单基因神经发育障碍
Servane de Masfrand,Benjamin Cogné,Mathilde Nizon et al.
Servane de Masfrand et al.
Purpose: Incomplete penetrance is observed for most monogenic diseases. However, for neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants (SNV/MNVs) is usually based on the paradigm of ...
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China [0.03%]
中国黏多糖贮积症Ⅶ型患者的临床表型及基因突变分析
Xueying Su,Xiaoyuan Zhao,Xi Yin et al.
Xueying Su et al.
Objective: This study aimed to explore the clinical and genetic features of Chinese patients with mucopolysaccharidosis type VII (MPS VII), thereby improving early detection, disease management, and patient outcomes. ...
A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility [0.03%]
基因组测序临床应用评估的系统回顾：缺乏临床应用标准定义和衡量方法的影响
Claudia Azuelos,Marc-Antoine Marquis,Anne-Marie Laberge
Claudia Azuelos
Purpose: Exome sequencing (ES) and genome sequencing (GS) are diagnostic tests for rare genetic diseases. Studies report clinical utility of ES/GS. The goal of this systematic review is to establish how clinical utility i...
Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities [0.03%]
向家庭成员披露遗传风险：医疗保健专业人员感知的角色和责任的质性研究
Álvaro Mendes,Milena Paneque,Jorge Sequeiros
Álvaro Mendes
This paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in supporting patients with the disclosure of genetic risk to their families. The study involved eight focus groups and two individu...
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies [0.03%]
软骨发育不全儿童的韧带松弛：流行程度、关节受累及对早期干预策略的影响
Domenico Marco Romeo,Virginia Pironi,Chiara Velli et al.
Domenico Marco Romeo et al.
Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. L...