A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate

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dc.contributor.authorSimsek\\-Kiper, Pelin Ozlem
dc.contributor.authorKosukcu, Can
dc.contributor.authorAkgun\\-Dogan, Ozlem
dc.contributor.authorGocmen, Rahsan
dc.contributor.authorUtine, Gulen Eda
dc.contributor.authorSoyer, Tutku
dc.contributor.authorKorkmaz\\-Toygar, Ayse
dc.contributor.authorNishimura, Gen
dc.contributor.authorAlikasifoglu, Mehmet
dc.contributor.authorBoduroglu, Koray
dc.date.accessioned2025-10-16T15:24:32Z
dc.date.issued2019
dc.identifier.doi10.1016/j.ejmg.2018.04.013
dc.identifier.otherWOS:000454833800004
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/8123
dc.publisherELSEVIER SCIENCE BV
dc.sourceEUROPEAN JOURNAL OF MEDICAL GENETICS
dc.subjectSpondylo\\-megaepiphyseal\\-metaphyseal dysplasia
dc.subjectPerinatal lethal
dc.subjectNKX3\\-2
dc.subjectDefective vertebral ossification
dc.titleA novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
dc.typeArticle

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