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CHARGE syndrome is an autosomal dominant disorder that occurs in 1/10,000 births. The acronym CHARGE summarizes six main clinical features: ocular Coloboma, Heart defects of any type, Atresia of the choaneae, mental Retardation, Genital and Ear anomalies. The CHD7 (chromodomain helicase DNA-binding) gene was identified as causative for the syndrome in 2/3 of patients with a clinical diagnosis of CHARGE.
Cat. No. LPU 021-S (5 tests)
Cat. No. LPU 021 (10 tests)
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