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Updated: Aug 3, 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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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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鉴定了两种新型MYH3变异,在产前诊断中引起不同的表型

Yang Yang1, Wen Zhang1, Hao Wang1,2

  • 1Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, Hangzhou, Zhejiang, China.

Prenatal diagnosis
|September 14, 2023
PubMed
概括

这项研究确定了两个新的MYH3基因变异,Phe342Val和Gln1291Pro,与不同的产前表型有关. 这些发现扩大了MYH3变体及其相关的骨发育障碍的已知范围.

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...