Clinical utility gene card for: CHARGE syndrome - update 2015

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.15. Epub 2015 Feb 18.

Authors

Conny M A van Ravenswaaij-Arts¹, Kim Blake², Lies Hoefsloot³, Alain Verloes⁴

Affiliations

¹ University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
² Department of Pediatrics, IWK Health Centre, Dalhouse University, Halifax, Nova Scotia, Canada.
³ Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
⁴ Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris, France.

No abstract available

MeSH terms

CHARGE Syndrome / diagnosis
CHARGE Syndrome / genetics*
CHARGE Syndrome / pathology
DNA Helicases / genetics*
DNA-Binding Proteins / genetics*
Genetic Predisposition to Disease*
Genetic Testing*
Humans

Substances

DNA-Binding Proteins
DNA Helicases
CHD7 protein, human