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...
Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report [0.03%]
GATA4致病突变与房室间隔缺损和先天性膈疝的相关性：1例报告
John Howat,Trisha Vigneswaran,Aris Papageorghiou et al.
John Howat et al.
Pathogenic variants in GATA4, a transcription factor, are predominantly associated with congenital heart defects and gonadal abnormalities. We describe a case of a maternally inherited GATA4 pathogenic variant (c.474C > G p.[Tyr158Ter]) in ...
Are NONO Variants Linked to Congenital Heart Disease? Patient Reports and Review [0.03%]
诺(nono)变异与先天性心脏病相关吗？患者报告和综述
Peiqing He,Sini Zou,Jianxiong Chen et al.
Peiqing He et al.
Pathogenic variants in the NONO gene (MIM #300084) are responsible for X-linked syndromic intellectual developmental disorder-34 (MRXS34, MIM #300967) characterized by macrocephaly, dysmorphic facial features, global developmental delay, hy...
Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3 [0.03%]
日本1例神经脑脂褐症III型的持续性淋巴细胞减少症病例报告
Kenta Kajiwara,Qiaowei Liang,Yuri Uchiyama et al.
Kenta Kajiwara et al.
Background: Neuronal ceroid lipofuscinosis (NCL) is a heterogeneous group of lysosomal disorders characterized by progressive psychomotor regression, visual impairment, and intractable seizures. Genetically, NCL type 3 (C...