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Researchers uncover genetic basis of heart defects and facial differences in syndrome
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Researchers uncover genetic basis of heart defects and facial differences in syndrome
HN Summary • New genetic cause identified: SickKids and University of Toronto researchers discovered previously unknown disease-causing variations in the EIF3A and EIF3B genes linked to congenital heart disease, facial differences and developmental delays. • Global validation: By connecting with international clinicians through GeneMatcher, the team identified 18 affected individuals worldwide, revealing a consistent pattern of heart defects a…
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