What you can learn from one gene: GLI3.

  title={What you can learn from one gene: GLI3.},
  author={Leslie G. Biesecker},
  journal={Journal of medical genetics},
  volume={43 6},
The study of patients with rare multiple congenital anomaly syndromes can provide illuminating insights into normal development and the pathogenesis of congenital anomalies. The GLI3 gene is a particularly good example as it illuminates the phenomena of pleiotropy, phenocopies, syndrome families, and evolutionary conservation of pathogenesis, and raises questions about how diagnoses are conceptualised. These topics are reviewed in turn, in the context of the clinical and biological data derived… CONTINUE READING