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Updated: Jun 5, 2025

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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16p11.2 删除综合征 删除综合征

Andrew Ruggero1, Carlos A Tirado2,3,1

  • 1The International Circle of Genetics Studies, New York Chapter, NY.

Journal of the Association of Genetic Technologists
|December 8, 2024
PubMed
概括

16p11.2删除综合征是一种影响认知能力的遗传疾病,是染色体16上的基因丢失导致的. 建议进行染色体微阵列分析进行诊断.

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