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- W4214542017 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" @default.
- W4214542017 created "2022-03-02" @default.
- W4214542017 creator A5062787205 @default.
- W4214542017 date "2004-08-20" @default.
- W4214542017 modified "2023-10-05" @default.
- W4214542017 title "Faculty Opinions recommendation of Mutations in a new member of the chromodomain gene family cause CHARGE syndrome." @default.
- W4214542017 doi "https://doi.org/10.3410/f.1020648.237452" @default.
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