Point mutations in GLI3 lead to misregulation of its subcellular localization.
BACKGROUND:Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrome (PHS). Mutations that lead to loss of function o...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2009-10-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC2758996?pdf=render |