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Article

<i>SEMA3E</i> mutation in a patient with CHARGE syndrome

1 Jul 2004

Abstract excerpt

CHARGE association (MIM 214800) is a sporadic disorder, characterised by coloboma of the eye, choanal atresia, cranial nerve dysfunction, characteristic external and inner ear abnormalities, cardiac anomalies, genitourinary abnormalities, and growth retardation. Various chromosomal rearrangements have been reported in rare patients with a CHARGE-like phenotype. These include balanced translocation between...

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Identifiers

PMID: 15235037
DOI: 10.1136/jmg.2003.017640

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