病例报告:非骨化纤维瘤与病理性骨折在患有NONO相关的X关联综合征性智力发育障碍的患者
Karin Writzl1,2, Blaž Mavčič2,3, Aleš Maver1,2
1Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Frontiers in genetics
|August 3, 2023
概括
这项研究确定了NONO基因中的新型变异,扩大了NONO-X相关智力障碍综合征的已知症状. 这些发现突出了以前没有报道的特征,如复发性骨折和脏异常.
科学领域:
- 遗传学 是一个遗传学.
- 发育生物学 发展生物学
- 医学遗传学 医学遗传学
背景情况:
- 这种NONO基因对于转录调节,RNA合成和DNA修复至关重要.
- 在NONO中功能丧失的变体会导致X链接综合征性智力发育障碍-34,一种具有有限记录表型的疾病.
- 现有的文献描述了发育迟缓,智力障碍以及特定的身体和心脏异常.
关键词:
这就是NONO NONO.与X相关的智力障碍综合征.左心室非紧缩性心肌病 - 左心室非紧缩性心肌病没有骨化的纤维瘤经常发生的骨折.血小板细胞减少症 (Thrombocytopenia) 是一种更多相关视频
05:44Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
Published on: May 17, 2024
614
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
相关概念视频
Fractures: Bone Repair
3.3K
Treatment for a fracture is based on the type of break, the bone affected, and the patient's age.
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
3.3K
Bone Disorders
3.7K
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
3.7K
Sutures of the Skull
7.0K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
7.0K
Sex-linked Disorders
102.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.4K
Disorders of the Skeletal Muscle
995
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
995
