1. Name of the Disease (Synonyms):
CHARGE syndrome (CHARGE association, Hall–Hittner syndrome)
2. OMIM# of the Disease:
214800
3. Name of the Analyzed Genes or DNA/Chromosome Segments:
CHD7
4. OMIM# of the Gene(s):
608892
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the CHD7 gene(s) in diagnostic and prenatal settings and for risk assessment in relatives.
- Conny MA van Ravenswaaij-Arts
- Kim Blake
- Alain Verloes
