First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders
Over the past five years, the MYCBP2 has emerged as a potential candidate gene associated with neurodevelopmental disorders (NDDs). In 2023, a newly characterized condition, termed MYCBP2-related developmental delay with corpus callosum defects (MDCD), has been reported in eight individuals presenti...
保存先:
| 主要な著者: | , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Sciendo
2025-10-01
|
| シリーズ: | Balkan Journal of Medical Genetics |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.2478/bjmg-2025-0007 |
| タグ: |
タグなし, このレコードへの初めてのタグを付けませんか!
|