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Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report.

Molecular syndromology · Karaduran B, Memiş G, Toprak C, Karaman V, Koruyucu M, Aslanger AD, Toksoy G, Uyguner ZO · 2026-06-16

A boy with a novel PUS7 gene mutation presented with developmental delay, facial differences, and dental anomalies including missing lower lateral baby teeth and cone-shaped lower central incisors, suggesting PUS7 variants may influence tooth development.

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