带有可变运动和语言障碍的神经发育障碍 (NEDMIAL):阿根廷报告了第一例病例
Manuel Linares1, Micaela Lambertucci2, Mateo Castellani3
1Universidad Católica de Córdoba, Córdoba, Argentina.
Archivos argentinos de pediatria
|July 1, 2025
概括
带有可变运动和语言障碍的神经发育障碍 (NEDMIAL) 是一种罕见的遗传疾病. 这一案例突出了阿根廷首个有记录的案例,强调了早期诊断和多学科治疗DHX30基因突变.
科学领域:
- 遗传学和分子生物学
- 神经科学是一个神经科学.
- 儿科 儿科 儿科
背景情况:
- 带有可变运动和语言障碍的神经发育障碍 (NEDMIAL) 是一种罕见的遗传疾病,由DHX30基因突变引起.
- DHX30编码了一种RNA酶,对信使RNA调节至关重要.
- 全球记录的病例不到110例,阿根廷没有先前报告.
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