Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

  title={Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.},
  author={Gabriel E Zentner and Wanda S. Layman and Donna M. Martin and Peter C. Scacheri},
  journal={American journal of medical genetics. Part A},
  volume={152A 3},
CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested… CONTINUE READING