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Nat Genet. 2004 Sep;36(9):955-7. Epub 2004 Aug 8.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

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1
Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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.

PMID:
15300250
DOI:
10.1038/ng1407
[Indexed for MEDLINE]
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