Publications by authors named "Lucy Marchesci"

CHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomainhelicase DNA-binding protein 7 (CHD7). The classical presentation includes coloboma,congenital heart defects, atresia of the choanae, retardation of development, genital hypoplasia, andear anomalies. Clinical presentation varies widely by type and severity.

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