Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant

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dc.contributor.authorAkgun\\-Dogan, Ozlem
dc.contributor.authorDiaz\\-Gonzalez, Francisca
dc.contributor.authorde Lima Jorge, Alexander Augusto
dc.contributor.authorOnenli\\-Mungan, Neslihan
dc.contributor.authorMenezes Andrade, Nathalia Liberatoscioli
dc.contributor.authorCellin, Laurana de Polli
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorRosa Modkovski, Maria Barcellos
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorHeath, Karen E.
dc.date.accessioned2025-10-16T15:14:28Z
dc.date.issued2024
dc.identifier.doi10.1038/s41431-023-01472-z
dc.identifier.otherWOS:001082274100004
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/6177
dc.publisherSPRINGERNATURE
dc.sourceEUROPEAN JOURNAL OF HUMAN GENETICS
dc.titleTwo new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant
dc.typeArticle

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