Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant [0.03%]
携带新型SGCE变异的一大家系基底节肌阵挛性 dystonia 的临床变异特点及家系分析
Cyprian Popescu
Cyprian Popescu
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder most caused by pathogenic variants in SGCE, an imprinted gene subject to maternal silencing. While numerous pathogenic variants have been reported, the extent and ...
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome [0.03%]
新生儿红皮病和免疫异常：软骨头发发育不良与Omenn综合征的重叠现象
Anna Insalaco,Cecilia Rossi,Emma Bertucci et al.
Anna Insalaco et al.
Cartilage hair hypoplasia (CHH) syndrome (OMIM 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hypotrichosis and variable extra-skeletal manifestations, including immunodeficienc...
Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype [0.03%]
新生儿中链酰基辅酶A脱氢酶缺乏症的窦性心动过速性心肌病样表现：一种新的心脏表型
Elisabetta Morana,Federico Baronio,Marcello Lanari et al.
Elisabetta Morana et al.
Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder in Europe. Clinical onset typically occurs between 3 and 24 months of life with hypoketotic hypoglycemia,...
Thoracic Chordoma Following Intracranial Meningioma in a Patient with a Novel Germline SMARCE1 Variant [0.03%]
一名携带新型SMARCE1胚系变异患者的颅内脑膜瘤后纵隔 chordoma 病例报告
Takao Tsurubuchi,Yuni Yamaki,Hiroko Fukushima et al.
Takao Tsurubuchi et al.
Paediatric cancer predisposing factors (CPFs), such as DICER1 syndrome, Li-Fraumeni syndrome, and SMARC-related syndromes, are increasingly being identified through genome-wide sequencing of surgical specimens. Among these, mutations in the...
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis [0.03%]
意大利天使综合症注册中心（IReAS）：一个进行标准化数据收集和基因型-表型分析的工具
Giorgia Buoncuore,Marco Salvatore,Adele Rocchetti et al.
Giorgia Buoncuore et al.
Background: Angelman syndrome (AS) is a rare and heterogeneous genetic disorder characterized by intellectual and psychomotor delay, speech deficits, seizures and behavioural issues. To evaluate the feasibility of collect...
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion [0.03%]
CUX2新型移码变异导致的癫痫和全面性发育迟缓：临床表型及基因型拓展
Ferruccio Romano,Mohammad Sadegh Shams Nosrati,Francesca Madia et al.
Ferruccio Romano et al.
The Cut Like Homeobox 2 (CUX2) gene encodes a transcription factor critical for neuronal development. Monoallelic pathogenic CUX2 variants are associated with developmental and epileptic encephalopathy 67 (DEE67), an autosomal dominant diso...
RECURRENCE OF OCCIPITAL MENINGOCELE IN 2 FETAL SIBS DUE TO MONOALLELIC MSX2 VARIANT [0.03%]
MSX2单等位基因变异导致的两个胎儿兄弟姐妹 occipital meningocele 的复发
Andreea-Catalina Fetecau,Sarah Grotto,Olivia Anselem et al.
Andreea-Catalina Fetecau et al.
Occipital encephaloceles are neural tube abnormalities characterized by a median defect of the occipital bone with herniation of brain structures usually contained in a membranous sac. Intracranial structures that protrude range from mening...
Real-world performance of Face2Gene and GestaltMatcher for facial image analysis in a large Indian ethnic cohort [0.03%]
Face2Gene和GestaltMatcher在印度大型民族队列面部图像分析中的真实世界性能评估
Shifali Gupta,Pratibha Bawa,Anu Kumari et al.
Shifali Gupta et al.
Background: Face2Gene and GestaltMatcher are two artificial intelligence-based tools for facial image analysis and syndrome suggestion. Material and metho...
French recommendations on multi-gene panel testing in renal cell carcinoma [0.03%]
法国肾细胞癌多基因检测试验推荐意见
Sophie Giraud,Pascaline Berthet,Caroline Abadie et al.
Sophie Giraud et al.
Introduction: Renal cancers are inherited in about 5 % of cases and are associated with several genetic syndromes. Genetic testing is recommended for selected patients suspected of having hereditary syndromes. In the abse...
An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank [0.03%]
犹他州医疗系统生物样本库研究型遗传结果的临床反馈评估电子回顾性分析
Giorgio Cocchella,Lillian Phung,Elisabeth Wood et al.
Giorgio Cocchella et al.
While research participants report interest in receiving genetic research results, how best to return results to ensure medical benefits remains unclear. In the Penn Medicine Biobank Return of Results Study, participants receive results thr...