Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia

Authors Akimova Daria, Markova Tatiana, Orlova Maria, Kenis Vladimir, Skoblov Mikhail
Journal Frontiers in Genetics
Publication Date 2026-01-08
DOI 10.3389/fgene.2025.1708985

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