Article
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2017
Hefner Margaret A, Fassi Emily
Abstract excerpt
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to...
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