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
What changedHigher risk of hypomyelinating leukodystrophy with biallelic PIKFYVE variants
The catchOnly five people from three families supported the genetic link