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Article

MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.

European journal of medical genetics - 1 Oct 2023

Corona-Rivera Jorge Román, Zenteno Juan Carlos, Ordoñez-Labastida Vianey, Cruz-Cruz Jessica Paola, Cortés-Pastrana Rocío Carolina, Peña-Padilla Christian, Bobadilla-Morales Lucina, Corona-Rivera Alfredo, Martínez-Herrera Alejandro

Abstract excerpt

MTSS2-related neurodevelopmental disorder (MTSS2-related NDD) (MIM 620086) is characterized by intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF). The only existing report to date described five individuals who exhibited an identical de novo c.2011C>T (p.Arg671Trp) variant in the MTSS2 gene. Herein, we report a new case of MTSS2-related NND in a male dizygotic twin...

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PMID: 37657631
DOI: 10.1016/j.ejmg.2023.104826

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