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[Dandy-walker syndrome and microdeletions on chromosome 7]

Can Liao1, Fang Fu, Ru Li

  • 1Institute of Perinatal Medicine, Women and Children's Medical Center of Guangzhou, Guangzhou Medical College, Guangzhou, Guangdong 510180, P. R. China. canliao@hotmail.com

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|February 8, 2012
PubMed
Summary

Genetic testing revealed copy number variations in the 7p21.3 region are linked to Dandy-Walker malformations. These genetic changes may affect NDUFA4 and PHF14 gene function, impacting central nervous system development.

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