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Ugeskr Laeger. 2007 Jan 29;169(5):402-6.

[Molecular diagnosis of CHARGE syndrom].

[Article in Danish]

Author information

  • 1Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling. anne-marie.bisgaard.pedersen@rh.hosp.dk

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.

PMID:
17280632
[PubMed - indexed for MEDLINE]
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