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The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.

Huimin LiZhan QiLimin XieChanjuan HaoWei Li
Published in: Molecular genetics & genomic medicine (2024)
This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported MBOAT7 variants.
Keyphrases
  • case report
  • copy number
  • intellectual disability
  • muscular dystrophy
  • gene expression