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A Novel MRTFB Missense Variant, c.479T>C p.(Leu160Pro), in a School-Aged Girl With Neurodevelopmental Disorder

ACMG Annual Clinical Genetics meeting 2025

American College of Medical Genetics

Los Angeles, CA, Mar 18-21 , 2025

Poster presentation: A Novel MRTFB Missense Variant, c.479T>C p.(Leu160Pro), in an 11-Year-Old Female with Neurodevelopmental Disorder

Authors: Nakles-Taylor RE, Paczos M, Bai S, Kääriäinen H, Calvo del Castillo M, Kline G, Linda M. Randolph LM

Specialty: Genetics, Neurology, Pediatrics

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