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Journal Abstract Search

185 related items for PubMed ID: 28892125

  • 1. Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
    Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I.
    Clin Genet; 2018 Mar; 93(3):671-674. PubMed ID: 28892125
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  • 2. UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
    Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y.
    Eur J Med Genet; 2020 Nov; 63(11):104021. PubMed ID: 32755715
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  • 7. A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
    Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A.
    Am J Med Genet A; 2013 Oct; 161A(10):2645-51. PubMed ID: 23956136
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  • 9. Structure of ubiquitin-fold modifier 1-specific protease UfSP2.
    Ha BH, Jeon YJ, Shin SC, Tatsumi K, Komatsu M, Tanaka K, Watson CM, Wallis G, Chung CH, Kim EE.
    J Biol Chem; 2011 Mar 25; 286(12):10248-57. PubMed ID: 21228277
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  • 10. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
    Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R.
    Clin Genet; 2017 Jan 25; 91(1):30-37. PubMed ID: 27102849
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  • 11. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.
    Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M.
    Pediatr Radiol; 2015 Apr 25; 45(5):771-6. PubMed ID: 25256152
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  • 19. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
    Zhang C, Du C, Ye J, Ye F, Wang R, Luo X, Liang Y.
    BMC Med Genet; 2020 May 29; 21(1):117. PubMed ID: 32471379
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  • 20. Progressive pseudorheumatoid dysplasia: three cases in one family.
    Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N.
    Joint Bone Spine; 2007 Jul 29; 74(4):393-5. PubMed ID: 17596985
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