Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family [0.03%]
丹麦一家系低外显率RB1变异引起的视网膜母细胞瘤
Pernille A Gregersen,Peter S Jensen,Rikke Christensen et al.
Pernille A Gregersen et al.
Retinoblastoma is the most common eye cancer in children. It is caused by pathogenic alterations of both alleles of the tumor suppressor gene RB1. In heritable retinoblastoma, a constitutional RB1 variant predisposes the cells to tumor form...
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s) [0.03%]
中心体蛋白CCP110的双等位基因功能丧失变异导致纤毛病样表型
Hisato Suzuki,Yukako Muramatsu,Fuyuki Miya et al.
Hisato Suzuki et al.
CCP110 (centriolar coiled coil protein 110, also known as CP110) is one of the essential proteins localized in the centrosome that plays critical roles in the regulation of the cell cycle and also in the initiation of ciliogenesis. So far, ...
Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male [0.03%]
先天性肾上腺皮质增生伴21-羟化酶缺乏和17α-羟化酶/17，20-裂解酶缺乏症：一例男性假两性畸形患者
Leyla Kara,Dilek Cicek,Ulku Gul Siraz et al.
Leyla Kara et al.
21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase...
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review [0.03%]
贾贝里-埃拉希综合征：探索一种新型GTPBP2突变及文献回顾
Jamal Manoochehri,Amirmasoud Shiri,Somayeh Khoddam et al.
Jamal Manoochehri et al.
Jaberi-Elahi syndrome is an extremely rare genetic disease caused by pathogenic variants in GTPBP2. The core symptoms of this disease are intellectual disability, motor development delay, abnormal reflexes, skeletal abnormalities, and visua...
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study [0.03%]
欧洲儿童和青少年酸性鞘磷脂酶缺乏的自然病史：一项回顾性观察研究
Eugen Mengel,Maurizio Scarpa,Nathalie Guffon et al.
Eugen Mengel et al.
Acid sphingomyelinase deficiency (ASMD) is a rare, lysosomal storage disease with limited evidence on its natural history. This retrospective, medical record abstraction study aimed to characterize the natural history of ASMD (types B and A...
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee [0.03%]
全球罕见病社区诊断缺口及优先事项的应对措施：来自IRDiRC诊断科学委员会的建议
David R Adams,Clara D M van Karnebeek,Sergi Beltran Agulló et al.
David R Adams et al.
The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on diagnostic aspects of the IRDiRC core mission. Specifically, IRDiRC goals include ...
Application of long read sequencing in rare diseases: The longer, the better? [0.03%]
长读序在罕见病中的应用：越长越好？
Si-Yan Yu,Yu-Lin Xi,Fu-Qiang Xu et al.
Si-Yan Yu et al.
Rare diseases encompass a diverse group of genetic disorders that affect a small proportion of the population. Identifying the underlying genetic causes of these conditions presents significant challenges due to their genetic heterogeneity ...
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases [0.03%]
欧洲罕见骨骼和矿物质状况的数据收集：注册表和数据库的现状
Ana Luisa Priego Zurita,Corinna Grasemann,Manila Boarini et al.
Ana Luisa Priego Zurita et al.
Background: knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community. ...
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS [0.03%]
采用基质辅助激光解析电离飞行时间质谱技术快速检测CYP21A2常见变异及缺失
Xiaoshan Yin,Yiming Lin,Ting Zhang et al.
Xiaoshan Yin et al.
Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. We have develope...
Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey [0.03%]
ATRX基因致病性内含子变异的鉴定结束诊断历程
Jasper J van der Smagt,Angeliki P Lampri,Iris de Lange et al.
Jasper J van der Smagt et al.
Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of how non-coding genetic elemen...