Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.
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DOI: 10.3766/jaaa.230055
Abstract: Objective: 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… read more here.
Keywords: loss; percent individuals; hearing loss; charge syndrome ... See more keywords