Scientific Article 🇬🇧 Mentions KS

From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies

person Giulia Bruna Marchetti et al., Genes (MDPI)

calendar_today Aug 27, 2026

This Genes article reports a young girl initially misdiagnosed with Kleefstra syndrome type 2. Whole-genome sequencing found PUS7 gene deletions, leading to a different diagnosis. The authors review PUS7-related disorder, compare it with ReNU syndrome, and emphasize the importance of careful genetic diagnosis and collaboration between clinicians and labs.