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Updated: Jul 7, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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遗传不稳定性和疾病进展 印度雷特综合征患者 患者

Mohan Gomathi1,2, Venkatesan Dhivya3,4, Vijayakumar Padmavathi5

  • 1Centre for Neuroscience, Department of Biotechnology, Karpagam Academy of Higher Education (Deemed to be University), Coimbatore, Tamil Nadu, 641021, India. gomathi.mohan@kahedu.edu.in.

Molecular neurobiology
|December 26, 2023
PubMed
概括

雷特综合征 (RTT) 是一种由MECP2基因突变引起的神经发育障碍,在经典形式和变异形式之间显示出明显的临床和生化差异. 早期对胆固醇,和TSH水平以及MECP2突变的查有助于RTT诊断和严重性预后.

关键词:
脂质新陈代谢 脂质新陈代谢甲基CpG结合蛋白2 甲基CpG结合蛋白2雷特综合征是什么意思 雷特综合征是什么意思脊椎病是什么?脊椎病是什么?脊椎病是什么?社会互动 社交互动

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