Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature

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dc.contributor.authorAkalin, Akcahan
dc.contributor.authorTaskiran, Ekim Z.
dc.contributor.authorSimsek\\-Kiper, Pelin Oezlem
dc.contributor.authorUtine, Eda
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorOzcelik, Ugur
dc.contributor.authorBoduroglu, Koray
dc.date.accessioned2025-10-16T15:19:13Z
dc.date.issued2021
dc.identifier.doi10.1002/ajmg.a.62378
dc.identifier.otherWOS:000658034900001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/7300
dc.publisherWILEY
dc.sourceAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.subjectexome sequencing
dc.subjectEXTL3
dc.subjectliver cysts
dc.subjectspondyloepimetaphyseal dysplasia
dc.titleSpondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature
dc.typeReview

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