Article
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Human mutation - 1 Oct 2009
Roessler Erich, El-Jaick Kenia B, Dubourg Christèle, Vélez Jorge I, Solomon Benjamin D, Pineda-Alvarez Daniel E, Lacbawan Felicitas, Zhou Nan, Ouspenskaia Maia, Paulussen Aimée, Smeets Hubert J, Hehr Ute, Bendavid Claude, Bale Sherri, Odent Sylvie, David Véronique, Muenke Maximilian
Abstract excerpt
Mutations within either the SHH gene or its related pathway components are the most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with the essential functions of this gene during forebrain development and patterning. Here we summarize the nature and types of deleterious sequence alterations among over one hundred distinct mutations in the SHH...
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