Mutations in a new member of the chromodomain gene family cause CHARGE syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2004-09

AUTHORS

Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel, Eric F P M Schoenmakers, Han G Brunner, Joris A Veltman, Ad Geurts van Kessel

ABSTRACT

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals. More... »

PAGES

955-957

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1407

DOI

http://dx.doi.org/10.1038/ng1407

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046897197

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15300250


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