Article
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Human genetics - 1 Aug 2013
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 excerpt
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 of thumbs and...
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