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Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life

18 Jun 2015

Abstract excerpt

Recent progress in genetic testing has facilitated obtaining an etiologic diagnosis in children with developmental delay/intellectual disability (DD/ID) or multiple congenital anomalies (MCA) or both. Little is known about the benefits of diagnostic elucidation for affected families. We studied the impact of a genetic diagnosis on parental quality of life (QoL) using a validated semiquantitative questionnaire in...

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PMID: 26084449
DOI: 10.1111/cge.12629

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