Health-related quality of life in patients with mitochondrial disease and their carers [0.03%]
线粒体病患者及其照料者的健康相关生活质量评估
Deborah Schofield,Joshua Kraindler,Katherine Lim et al.
Deborah Schofield et al.
Background: Mitochondrial diseases are a group of rare, chronic disorders with a significant disease burden; however, there is limited knowledge about their effects on the health-related quality of life (HRQoL) of patient...
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation [0.03%]
罕见皮肤病发病机制研究——非支配性营养不良性大疱表皮松解症携带独特c. 6527 ins C突变的塞法迪人种群分离分析
Emily Mira Warshauer,Paul A Maier,Goran Runfeldt et al.
Emily Mira Warshauer et al.
Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe blistering skin disorder caused by loss-of-function mutations in the type VII collagen gene (COL7A1). The COL7A1 c.6527insC mutation is cu...
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify [0.03%]
基于BayesQuantify的ACMG/AMP变异分类标准的校准与优化
Sihan Liu,Xiaoshu Feng,Yang Wu et al.
Sihan Liu et al.
Background: Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical Genetics/Association of Molecular...
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort [0.03%]
中国大样本队列揭示小眼症全面的遗传图谱和临床异质性
Qingdan Xu,Yiwen Zhou,Jiajian Wang et al.
Qingdan Xu et al.
Background: Nanophthalmos is a rare ocular condition characterised by a significantly short axial length (AL) and high hyperopia, often associated with various complications. This study aims to provide a comprehensive ana...
Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus [0.03%]
TBX2杂合移码突变导致一种新的综合征性听力损失伴不完全外显眼球震颤表型
Wan Hua,Yanfei Wang,Xiang Li et al.
Wan Hua et al.
Background: A substantial fraction of hereditary hearing loss (HL) remains unexplained by known HL genes. Tbx2 is a developmental transcription factor critical for inner ear hair cell differentiation in mice, while its pa...
GAPO syndrome: a comprehensive examination and review of 105 clinical cases [0.03%]
GAPO综合征的全面分析及105例临床复习
Clarissa Modafferi,Pino D&#x;Ambrosio,Silvia Andaloro et al.
Clarissa Modafferi et al.
Growth retardation, alopecia, pseudoanodontia and optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the ANTXR1 gene. While significant progress has been made in understanding its...
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder [0.03%]
威廉姆斯综合征染色体区域的GTF2I杂合子改变会导致神经发育异常
Jeanne Jury,Thomas Besnard,Wallid Deb et al.
Jeanne Jury et al.
Purpose: Williams-Beuren syndrome (WBS) is a well-known neurodevelopmental disorder caused by a copy-number loss at the 7q11.23 locus. Although the 1.5-1.8 Mb recurrent deletion carries several genes of interest, no singl...
Six at Sixty. 'No gain, no pain': medical genetics taking Nav1.7 from target to pharmacy [0.03%]
六十六岁看人生：医学遗传学中Nav1.7从靶点到药物的发展之路：“没有付出就没有收获”
Pu Xia,Ran Mo,Linghan Hu et al.
Pu Xia et al.
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement [0.03%]
RNU4ATAC变异体导致具有骨骼异常的焦博特综合征的进一步证据
Fulvio D&#x;Abrusco,Simone Gana,Enrico Alfei et al.
Fulvio D&#x;Abrusco et al.
RNU4ATAC is a non-coding gene involved in the minor spliceosome, and is mutated in a spectrum of syndromic skeletal disorders with recessive inheritance. Recently, biallelic RNU4ATAC pathogenic variants were detected in five patients presen...
Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism [0.03%]
N651D GRIA3复合功能后果：一名发育性和癫痫性脑病伴帕金森综合征患者的病例报告
Carmen Fons,Yu-Han Ge,Laura Kristine Rasmussen et al.
Carmen Fons et al.
Rare variants in GRIA3, the gene encoding the GluA3 subunit of amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors (AMPARs), are associated with defects in early brain development. Disease-causing variants are...