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Journal Abstract Search

182 related items for PubMed ID: 23996431

  • 21. Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis.
    Turner AE, Abu-Ghname A, Davis MJ, Shih L, Volk AS, Streff H, Buchanan EP.
    J Craniofac Surg; 2020; 31(5):e471-e475. PubMed ID: 32310878
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  • 25. Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.
    Grosse G, Hilger A, Ludwig M, Reutter H, Lorenzen F, Even G, Holterhus PM, Woelfle J, German GHI Study Group.
    Horm Res Paediatr; 2017; 88(6):408-417. PubMed ID: 29073591
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  • 27. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
    Diaz GA, Khan KT, Gelb BD.
    Genomics; 1998 Nov 15; 54(1):13-8. PubMed ID: 9806825
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  • 28. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
    Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L.
    Genes (Basel); 2022 Jan 28; 13(2):. PubMed ID: 35205306
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  • 29. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 28; 56(3):105-52. PubMed ID: 19728970
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  • 34. Unusual cause of short stature.
    Larsen JL, Kivlin J, Odell WD.
    Am J Med; 1985 Jun 28; 78(6 Pt 1):1025-32. PubMed ID: 3893111
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  • 35. Characterization of optical coherence topography findings in Kenny-Caffey syndrome.
    Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D.
    J AAPOS; 2007 Jun 28; 11(3):291-3. PubMed ID: 17360206
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  • 36. Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
    Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C.
    Acta Ophthalmol; 2021 Jun 28; 99(4):e594-e607. PubMed ID: 32996714
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  • 37. A novel variant of FGFR3 causes proportionate short stature.
    Kant SG, Cervenkova I, Balek L, Trantirek L, Santen GW, de Vries MC, van Duyvenvoorde HA, van der Wielen MJ, Verkerk AJ, Uitterlinden AG, Hannema SE, Wit JM, Oostdijk W, Krejci P, Losekoot M.
    Eur J Endocrinol; 2015 Jun 28; 172(6):763-70. PubMed ID: 25777271
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  • 40. Oral rehabilitation of a patient with Kenny-Caffey syndrome using telescopic overdenture.
    Nazar A, George R, Mathew N.
    J Indian Prosthodont Soc; 2021 Jun 28; 21(2):204-207. PubMed ID: 33938872
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