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Journal Abstract Search

137 related items for PubMed ID: 32583964

  • 1. A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
    Liu M, Zhang X, Liu H, Shen Y.
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1392. PubMed ID: 32583964
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  • 6. A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2).
    Wang WB, Jia YC, Zhang Z, Xu J, Zuo RT, Kang QL.
    Gene; 2018 Feb 05; 642():110-115. PubMed ID: 29129813
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  • 7. Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases.
    Ramassamy S, Gibikote S, George RE.
    Indian J Dermatol Venereol Leprol; 2016 Feb 05; 82(6):693-695. PubMed ID: 27320764
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  • 8. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
    Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C, FORGE Canada Consortium, Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F.
    Am J Hum Genet; 2013 Feb 07; 92(2):252-8. PubMed ID: 23290074
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  • 10. A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.
    Huang J, Liu HY, Wang RR, Xiao H, Wu D, Li T, Jiang YH, Zhang X.
    Chin Med J (Engl); 2019 Jul 20; 132(14):1681-1688. PubMed ID: 31283647
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  • 11. A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
    Wasif N, Ahmad W.
    Pediatr Dermatol; 2013 Jul 20; 30(1):139-41. PubMed ID: 22300369
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  • 12. [Total congenital anonychia].
    Gebhardt C, Drewes J, Buysch KH, Sailer R.
    Radiologe; 1972 Mar 20; 12(3):106-11. PubMed ID: 5048520
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  • 13. A case report on autosomal recessive total congenital anonychia.
    Balta I, Kalkan G.
    Pediatr Dermatol; 2013 Mar 20; 30(6):e268-9. PubMed ID: 23679125
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  • 14. Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.
    Zhang M, Lu L, Wei B, Zhang Y, Li X, Shi Y, Ge W, Sun M.
    Am J Med Genet A; 2020 Oct 20; 182(10):2432-2436. PubMed ID: 32789964
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  • 18. A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges.
    Cooks RG, Hertz M, Katznelson MB, Goodman RM.
    Clin Genet; 1985 Jan 20; 27(1):85-91. PubMed ID: 3978841
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  • 19. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.
    Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M.
    Eur J Hum Genet; 2016 Aug 20; 24(8):1132-6. PubMed ID: 26733284
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  • 20. A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.
    Su P, Ding H, Huang D, Zhou Y, Huang W, Zhong L, Vyse TJ, Wang Y.
    J Med Genet; 2011 May 20; 48(5):312-6. PubMed ID: 21357617
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