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Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

Authors: Dentici ML; Niceta M; Pantaleoni F; Barresi S; Bencivenga P; Dallapiccola B; Digilio MC; Tartaglia M

Abstract

Case and literature review expanding clinical spectrum of truncating POGZ variants, including CNS malformations and skeletal findings.

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