一个患有和多器官衰竭的女儿的致病变体:一个病例报告
Li Wang1, Yongjian Huang1, Xinglou Liu1
1Department of Pediatrics, Tongji Hospital, Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Translational pediatrics
|July 10, 2023
概括
神经细胞延伸和迁移因子 (NEXMIF) 基因变异在患有多器官衰竭 (MOF) 的儿童中被确定. 这个案例扩大了已知的NEXMIF变体表型,并突出了潜在的严重并发症,包括死亡.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 儿科 儿科 儿科
背景情况:
- 神经细胞延伸和迁移因子 (NEXMIF) 基因对神经发育至关重要,特别是神经细胞延伸和迁移.
- NEXMIF变异与X相关的智力障碍98和X相关的主导遗传有关.
- 临床表现包括智力障碍,自闭症行为,发育迟缓,形特征和发作.
更多相关视频
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.7K
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.8K
相关概念视频
01:23Cystic Fibrosis: Pathogenesis
293
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
293
01:13Seizures: Classification
426
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
426