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Updated: Jun 11, 2025

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在RNU4-2中具有病原性变异的11个个体的深度表型化揭示了临床上可识别的综合征

Irene Valenzuela1, Marta Codina-Solà1, Elida Vazquez2

  • 1Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

Genetics in medicine : official journal of the American College of Medical Genetics
|October 6, 2024
PubMed
概括

在RNU4-2的遗传变异导致神经发育障碍 (NDD) 具有独特的特征. 这项研究详细介绍了11例新病例,改善了对RNU4-2综合征的理解,并帮助诊断.

关键词:
深度表型化 (deep phenotyping) 是一种深度表型化.诊断标准 诊断标准 诊断标准神经发育障碍是一种神经发育障碍.非编码的拼接体snRNARNU4-2 RNU4-2 这是一个很大的问题.

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