Article
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Human mutation - 1 Apr 2009
Roessler Erich, Lacbawan Felicitas, Dubourg Christèle, Paulussen Aimee, Herbergs Jos, Hehr Ute, Bendavid Claude, Zhou Nan, Ouspenskaia Maia, Bale Sherri, Odent Sylvie, David Vèronique, Muenke Maximilian
Abstract excerpt
Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that complete deficiency of the related murine Zic2 transcription factor can also be a contributing factor to variable...
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