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Updated: Jun 19, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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一种新型的MCPH1内部变异的功能分析,该变异具有自体逆性原发性小头症

Shulin Luo1, Lingyan Ren1, Rongping Wang2

  • 1Department of Medical Genetics/Prenatal Diagnosis Center, Guizhou Provincial People's Hospital, Guiyang, Guizhou Province, 550003, China.

Heliyon
|May 31, 2024
PubMed
概括

在MCPH1基因的新型遗传突变导致初级小头症和不孕症. 这一发现扩大了原发性小头症的已知原因,并为改善诊断和基因治疗提供了潜在的可能性.

关键词:
在MCPH1中,微头症是一个微头症.一个微型的基因c.233+2T>G.233+2T>G.233+2T>G.233+2T>G.233+2T>G.233+2T>G.233+2T>G.233+2T>G.

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