Char Syndrome News and Research

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Char syndrome is a genetic disorder that is characterized by 3 key features: abnormal facial appearance, a defective heart called patent ductus arteriosus and abnormalities of the hand. It is caused by mutations in the TFAP2B gene that hinders the development of the heart, face and limbs. It is a rare genetic condition and only a handful of families have been identified with this syndrome globally.

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