Tekendo-Ngongang Cedrik, Muenke Maximilian, Kruszka Paul
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
American College of Medical Genetics and Genomics (ACMG), Bethesda, Maryland
The purpose of this overview is to: 1.. Describe the clinical characteristics of holoprosencephaly; 2.. Review the genetic causes of holoprosencephaly; 3.. Provide an evaluation strategy to identify (when possible) the genetic cause of holoprosencephaly in a proband; 4.. Inform genetic counseling of family members of an individual with holoprosencephaly.
