A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2

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dc.contributor.authorYeter, Burcu
dc.contributor.authorSezgin, Batin Ilgit
dc.contributor.authorDilek, Yunus Emre
dc.contributor.authorDemirkol, Yasemin Kendir
dc.contributor.authorSelamioglu, Arzu
dc.contributor.authorKirmizibekmez, Heves
dc.contributor.authorCelebiler, Hande Kaymakcalan
dc.contributor.authorAkcapinar, Gunseli Bayram
dc.date.accessioned2025-10-16T15:11:54Z
dc.date.issued2025
dc.identifier.doi10.1159/000545570
dc.identifier.otherWOS:001544297200001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/5108
dc.publisherKARGER
dc.sourceMOLECULAR SYNDROMOLOGY
dc.subjectProtein modeling
dc.subjectSCUBE3
dc.subjectShort stature
dc.subjectSSFSC2
dc.subjectExome sequencing
dc.titleA Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2
dc.typeArticle

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