Clinical utility gene card for: CHARGE syndrome - update 2015

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.

Conny M A van Ravenswaaij-Arts et al. Eur J Hum Genet. 2015 Nov.

. 2015 Nov;23(11).

doi: 10.1038/ejhg.2015.15. Epub 2015 Feb 18.

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

References

1. Janssen N, Bergman JE, Swertz MA et al: Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 2012; 33: 1149–1160. - PubMed
1. Vissers LE, van Ravenswaaij CMA, Admiraal R et al: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004; 36: 955–957. - PubMed
1. Bergman JEH, de Wijs I, Hoefsloot LH, Jongmans MCJ, van Ravenswaaij CMA: Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE syndrome. Eur J Med Genet 2008; 51: 417–425. - PubMed
1. Bergman JEH, Janssen N, Jongmans M, Hoefsloot LH, van Ravenswaaij-Arts CMA: CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 2011; 48: 334–342. - PubMed
1. Wincent J, Schulze A, Schoumans J: Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet 2009; 52: 271–272. - PubMed