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  • Title: [Molecular diagnosis of CHARGE syndrom].
    Author: Pedersen AM, Skovby F.
    Journal: Ugeskr Laeger; 2007 Jan 29; 169(5):402-6. PubMed ID: 17280632.
    Abstract:
    CHARGE (coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies) is a genetically heterogeneous syndrome in which CHD7 (chromodomain helicase DNA-binding protein 7) mutations account for about 60% of the cases. There is no obvious genotype-phenotype correlation but the majority of the patients fulfils the diagnostic criteria previously proposed. CHARGE syndrome should be considered in children with facial asymmetry, colobomas or choanal atresia; ear abnormalities are of great diagnostic value.
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