Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

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dc.contributor.authorCzeschik, J. C.
dc.contributor.authorVoigt, C.
dc.contributor.authorAlanay, Y.
dc.contributor.authorAlbrecht, B.
dc.contributor.authorAvci, S.
dc.contributor.authorFitzPatrick, D.
dc.contributor.authorGoudie, D. R.
dc.contributor.authorHehr, U.
dc.contributor.authorHoogeboom, A. J.
dc.contributor.authorKayserili, H.
dc.contributor.authorSimsek\\-Kiper, P. O.
dc.contributor.authorKlein\\-Hitpass, L.
dc.contributor.authorKuechler, A.
dc.contributor.authorLopez\\-Gonzalez, V.
dc.contributor.authorMartin, M.
dc.contributor.authorRahmann, S.
dc.contributor.authorSchweiger, B.
dc.contributor.authorSplitt, M.
dc.contributor.authorWollnik, B.
dc.contributor.authorLuedecke, H\\-J
dc.contributor.authorZeschnigk, M.
dc.contributor.authorWieczorek, D.
dc.date.accessioned2025-10-16T15:34:19Z
dc.date.issued2013
dc.identifier.doi10.1007/s00439-013-1295-2
dc.identifier.otherWOS:000321909000003
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/9351
dc.publisherSPRINGER
dc.sourceHUMAN GENETICS
dc.subjectAcrofacial dysostosis
dc.subjectPreaxial limb defect
dc.subjectThumb hypoplasia
dc.subjectRadial hypoplasia
dc.subjectSF3B4
dc.subjectEFTUD2
dc.subjectExome sequencing
dc.titleClinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
dc.typeArticle

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