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Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
Akgun-Dogan O, Díaz-González F, de Lima Jorge AA, Onenli-Mungan N, Menezes Andrade NL, de Polli Cellin L, Ceylaner S, Barcellos Rosa Modkovski M, Alanay Y, Heath KE. Akgun-Dogan O, et al. Among authors: de polli cellin l. Eur J Hum Genet. 2024 Oct;32(10):1250-1256. doi: 10.1038/s41431-023-01472-z. Epub 2023 Oct 4. Eur J Hum Genet. 2024. PMID: 37789084