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

Czeschik, J. C. ; Voigt, C. ; Alanay, Y. ; Albrecht, B. ; Avci, S. ; FitzPatrick, D. ; Goudie, D. R. ; Hehr, U. ; Hoogeboom, A. J. ; Kayserili, H. ; Simsek-Kiper, P. O. ; Klein-Hitpass, L. ; Kuechler, A. ; López-González, V. ; Martin, M. ; Rahmann, S. ; Schweiger, B. ; Splitt, M. ; Wollnik, B. ; Lüdecke, H. -J. ; Zeschnigk, M. ; Wieczorek, D.



Abstract

Nager syndrome (MIM #154400) is the best-known preaxial acrofacial dysostosis, mainly characterized by craniofacial and preaxial limb anomalies. The craniofacial abnormalities mainly consist of downslanting palpebral fissures, malar hypoplasia, micrognathia, external ear anomalies, and cleft palate. The preaxial limb defects are characterized by radial and thumb hypoplasia or aplasia, duplication ...

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