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与MTSS2相关的疾病:在四个新病例和文献审查中改进表型

Angela De Dominicis1, Francesca Piceci Sparascio2, Fabrizia Stregapede2,3

  • 1Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.

American journal of medical genetics. Part A
|January 31, 2025
PubMed
概括

MTSS2基因变异c.2011C>T (p.Arg671Trp) 导致一种神经发育障碍,其特征是智力障碍,小头症和独特的面部特征. 这项研究扩大了已知的病例,详细介绍了神经和系统性并发症.

关键词:
这就是MTSS2的原因.神经发育障碍 神经发育障碍现型驱动的NGS战略是基于现型驱动的.

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