Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders.

Abstract excerpt

BACKGROUND: The PAN2 gene encodes a subunit of a deadenylation complex. CASE: In this study, we aimed to evaluate the homozygous missense variant detected in the PAN2 gene through whole-exome sequencing analysis in a case with multiple congenital anomalies and neuromotor developmental delay. A 4.5-year-old boy was referred to the pediatric genetics clinic due to multiple congenital anomalies and developmental...

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