SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity

@article{SchellApacik2003SONICHM,
  title={SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity},
  author={Can Schell-Apacik and Mar{\'i}a A. Mart{\'i}nez Rivero and Jessica L. Knepper and Erich Roessler and Maximilian Muenke and Jeffrey E. Ming},
  journal={Human Genetics},
  year={2003},
  volume={113},
  pages={170-177}
}
Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE. Among these genes, mutations in SONIC HEDGEHOG (SHH) are the most commonly identified single gene defect causing human HPE. SHH mediates a number of processes in central nervous… CONTINUE READING
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