Article
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
American journal of medical genetics. Part A - 1 Jul 2021
Onesimo Roberta, Versacci Paolo, Delogu Angelica Bibiana, De Rosa Gabriella, Pugnaloni Flaminia, Blandino Rita, Leoni Chiara, Calcagni Giulio, Digilio Maria C, Zollino Marcella, Marino Bruno, Zampino Giuseppe
Abstract excerpt
Smith-Magenis syndrome (SMS) is a genetic disorder characterized by multiple congenital anomalies, sleep disturbance, behavioral impairment, and intellectual disability. Its genetic cause has been defined as an alteration in the Retinoic Acid-Induced 1 gene. Cardiac anomalies have been reported since the first description of this condition in patients with 17p11.2 deletion. Variable cardiac defects, including...
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