Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients

dc.contributor.authorAkalin, Akcahan
dc.contributor.authorOzsin, Cansu
dc.contributor.authorKoc, Nagihan
dc.contributor.authorDemir, Gizem Urel
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorUtine, Eda
dc.contributor.authorBoduroglu, Koray
dc.contributor.authorTekcicek, Meryem
dc.contributor.authorSimsek\\-Kiper, Pelin Ozlem
dc.date.accessioned2025-10-16T15:15:59Z
dc.date.issued2023
dc.identifier.doi10.1016/j.ejmg.2023.104708
dc.identifier.otherWOS:000931798600001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/6588
dc.publisherELSEVIER
dc.sourceEUROPEAN JOURNAL OF MEDICAL GENETICS
dc.subjectSpondylo\\-meta\\-epiphyseal dysplasia
dc.subjectDDR2
dc.subjectOrodental features
dc.subjectSkeletal dysplasia
dc.titleSpondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients
dc.typeArticle

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