Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification

@article{Shi2019IdentificationOA,
  title={Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification},
  author={Chang-he Shi and Shuo Zhang and Zhi-hua Yang and Yu-tao Liu and Yu-sheng Li and Zhuo Li and Zheng-wei Hu and Yu-ming Xu},
  journal={Brain and Development},
  year={2019},
  volume={41},
  pages={29-35}
}
PURPOSE To investigate the genetic and clinical features of a Chinese family exhibiting an autosomal dominant inheritance pattern of lissencephaly. METHODS Clinical examinations and cranial imaging studies were performed for all members of the family (two unaffected members and three surviving members from a total of four affected members). In addition, whole-exome sequencing analysis was performed for DNA from an affected patient to scan for candidate mutations, followed by Sanger sequencing… Expand
1 Citations
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