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Journal Abstract Search

204 related items for PubMed ID: 1433242

  • 21. Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.
    Wulfsberg EA, Campbell AB, Lurie IW, Eanet KR.
    Am J Med Genet; 1996 Jun 28; 63(4):554-7. PubMed ID: 8826434
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  • 27. Acrofacial dysostosis of Nager and ocular abnormalities.
    Pavone L, Mollica F, Pero G, Tigano G, Giancarlo H, Mattucci K, Setzen M.
    Ophthalmic Paediatr Genet; 1986 Aug 28; 7(2):115-9. PubMed ID: 3097597
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  • 28. Human genetics: Genomes on prescription.
    Maher B.
    Nature; 2011 Oct 05; 478(7367):22-4. PubMed ID: 21979025
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  • 29. Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction.
    Fang J, Uchiumi T, Yagi M, Matsumoto S, Amamoto R, Takazaki S, Yamaza H, Nonaka K, Kang D.
    Biosci Rep; 2013 Feb 05; 33(2):e00021. PubMed ID: 23216091
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  • 31. Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis).
    Bowen P, Harley F.
    Birth Defects Orig Artic Ser; 1974 Feb 05; 10(5):109-15. PubMed ID: 4469973
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  • 32. Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family.
    Richieri-Costa A, Gollop TR, Colletto GM.
    Am J Med Genet; 1983 Feb 05; 14(2):225-9. PubMed ID: 6837626
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  • 35. Unusual acrofacial dysostosis with severe limb defects: a new syndrome.
    Karaman A, Kahveci H.
    Genet Couns; 2011 Feb 05; 22(3):249-53. PubMed ID: 22029165
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  • 36. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
    Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z.
    Hum Genet; 2006 Mar 05; 119(1-2):199-205. PubMed ID: 16404586
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  • 37. Anophthalmia with cleft palate and micrognathia: a new syndrome?
    Phadke SR, Sharma AK, Agarwal SS.
    J Med Genet; 1994 Dec 05; 31(12):960-1. PubMed ID: 7891380
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  • 38. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
    Irving MD, Dimitrov BI, Wessels M, Holder-Espinasse M, Chitayat D, Simpson MA.
    Am J Med Genet A; 2016 Dec 05; 170(12):3133-3137. PubMed ID: 27642715
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  • 39. [Nager syndrome].
    Opitz C, Shetty DK, Witkowski R.
    Mund Kiefer Gesichtschir; 1998 May 05; 2(3):122-6. PubMed ID: 9658800
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  • 40. Nager acrofacial dysostosis: male-to-male transmission in 2 families.
    Aylsworth AS, Lin AE, Friedman PA.
    Am J Med Genet; 1991 Oct 01; 41(1):83-8. PubMed ID: 1951468
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