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Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.

Xiaohua JinLisha AnShengju HaoQian LiuQinhua ZhangXing WangXuan FengChuan ZhangXiaofang CaoYousheng YanXu Ma
Published in: Journal of clinical laboratory analysis (2020)
We report a case of siblings in a Chinese family with infantile-onset PPS caused by FBXO7 gene mutations determined by WES. These findings will contribute to the in-depth study of the pathogenesis of PPS among patients with FBXO7 gene mutations.
Keyphrases
  • copy number
  • intellectual disability
  • early onset
  • genome wide
  • optical coherence tomography
  • case report
  • gene expression
  • transcription factor
  • genome wide identification