Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
Author:
Affiliation:
1. Department of Pediatrics, UOSD Rare Diseases; IRCCS Istituto Giannina Gaslini; Genoa Italy
2. UOC Medical Genetics; IRCCS Istituto Giannina Gaslini; Genoa Italy
3. UOC Pediatric Orthopedics; IRCCS Istituto Giannina Gaslini; Genoa Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13134/fullpdf
Reference9 articles.
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2. Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35;Roby;Am J Hum Genet,1999
3. Identification of a mutation in the ubiquitin-fold modifier1-specific peptidase 2 gene, UFSP2, in an extended south African family with Beukes hip dysplasia;Watson;S Afr Med J,2015
4. dbNSFP v3.0 a one-stop database of functional predictions and annotatios for human nonsynonymous and spice-site SNVs human mutations;Liu;Hum Mutat,2016
5. A general framework for estimating the relative pathogenicity of human genetic variants;Kircher;Nat Genet,2014
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