Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 ( MED17 )

Title
Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 ( MED17 )
Authors
Keywords
Whole exome sequencing, Mediator complex subunit 17, Compound heterozygous mutation, Choreiform movement, Nystagmus
Journal
BRAIN & DEVELOPMENT
Volume 38, Issue 1, Pages 118-123
Publisher
Elsevier BV
Online
2015-12-18
DOI
10.1016/j.braindev.2015.05.004

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