Article
Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6.
BMC developmental biology - 9 Oct 2006
Zaki Paulette A, Collinson J Martin, Toraiwa Junko, Simpson T Ian, Price David J, Quinn Jane C
Abstract excerpt
BACKGROUND: Knowledge of the consequences of heterozygous mutations of developmentally important genes is important for understanding human genetic disorders. The Gli3 gene encodes a zinc finger transcription factor and homozygous loss-of-function mutations of Gli3 are lethal. Humans heterozygous for mutations in this gene suffer Greig cephalopolysyndactyly or Pallister-Hall syndromes, in which limb defects are...
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