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What is MTSS2-Related Neurodevelopmental Disorder about?

This article discusses a case of MTSS2-related neurodevelopmental disorder (NDD) characterized by intellectual developmental disorder with ocular anomalies and distinctive facial features, specifically highlighting a new patient with severe intellectual disability and additional clinical features not previously reported. The recurrent pathogenic variant c.2011C>T (p.Arg671Trp) in the MTSS2 gene was identified, confirming its role in the disorder. The findings expand the phenotypic spectrum associated with M

Author

acrmarcopolo

Language

EN