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Updated: Jun 10, 2025

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扩大NRROS相关SENEBAC综合征的表型

Varunvenkat M Srinivasan1, Vykuntaraju K Gowda2, Annsmol P Markose2

  • 1Department of Medical Genetics, Postgraduate Institute of Child Health, Noida, Uttar Pradesh, India.

American journal of medical genetics. Part A
|October 18, 2024
PubMed
概括

在NRROS基因中的双变异会导致一种罕见的神经疾病,其特征是发作,神经退行和大脑化 (SENEBAC). 这项研究在印度儿童中发现了一种新的NRROS变异,扩大了这种综合征已知的临床和分子谱.

关键词:
它们是NRROS和NRROS.这就是SENEBAC综合征.神经发育障碍是一种神经发育障碍.这种新型变种是新奇的.

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