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  5. Pelizaeus-Merzbacher-like disease- autosomal recessive-...

Pelizaeus-Merzbacher-like disease- autosomal recessive- 2

December 31, 2014

Latest Research

  • A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease
  • A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
  • An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
  • Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease
  • Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
More Research
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