Microcephaly

Disease

3 papers

MeSH

  • Humans2
  • Animals1

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Brain

Gene variants linked to brain disorder in five people

Sequencing identified changes in both copies of PIKFYVE in five people from three families with a disorder involving too little insulation around nerve fibres.Sequencing identified changes in both copies of PIKFYVE in five people from three families with a disorder involving too little insulation around nerve fibres.

Study of 5 peopleMechanisms

Limit: Only five people from three families supported the genetic link