| Abstrakt: |
A recent study conducted by researchers at the Shengli Clinical Medical College of Fujian Medical University in China has identified a novel variant in the ATAD3A gene that is associated with Harel-Yoon syndrome (HAYOS). HAYOS is a rare genetic disorder characterized by various clinical features, including seizures, laryngeal stridor, hypotonia, feeding difficulties, corneal opacity, and respiratory failure. The study expands the understanding of the mutation spectrum associated with ATAD3A and provides a comprehensive description of the clinical characteristics observed during the neonatal phase of HAYOS. This research may contribute to improved clinical recognition and management of ATAD3A-associated HAYOS. [Extracted from the article] |
