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166 related items for PubMed ID: 28498426

  • 1. Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.
    Deng H, Tan T, He Q, Lin Q, Yang Z, Zhu A, Guan L, Xiao J, Song Z, Guo Y.
    Mol Med Rep; 2017 Jul; 16(1):473-477. PubMed ID: 28498426
    [Abstract] [Full Text] [Related]

  • 2. Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.
    Husile H, Wu Z, Yang L, Cao Y, Wu Q.
    BMC Med Genomics; 2022 Oct 04; 15(1):210. PubMed ID: 36195906
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
    Dai L, Liu D, Song M, Xu X, Xiong G, Yang K, Zhang K, Meng H, Guo H, Bai Y.
    PLoS One; 2014 Oct 04; 9(5):e96192. PubMed ID: 24789103
    [Abstract] [Full Text] [Related]

  • 4. A Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly.
    Guo X, Shi T, Lin M, Zhang Y.
    Tohoku J Exp Med; 2019 Oct 04; 249(2):93-100. PubMed ID: 31611522
    [Abstract] [Full Text] [Related]

  • 5. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
    Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M.
    Am J Med Genet A; 2016 Mar 04; 170(3):615-21. PubMed ID: 26581570
    [Abstract] [Full Text] [Related]

  • 6. Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
    Wang B, Li N, Geng J, Wang Z, Fu Q, Wang J, Xu Y.
    Congenit Anom (Kyoto); 2017 Jan 04; 57(1):4-7. PubMed ID: 27254532
    [Abstract] [Full Text] [Related]

  • 7. A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
    Zaib T, Ji W, Saleem K, Nie G, Li C, Cao L, Xu B, Dong K, Yu H, Hao X, Xue Y, Si S, Jia X, Wu J, Zhang X, Guan R, Ji G, Bai J, Chen F, Liu Y, Sun W, Fu S.
    BMC Med Genet; 2019 Dec 23; 20(1):203. PubMed ID: 31870337
    [Abstract] [Full Text] [Related]

  • 8. Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families.
    Zu B, Wang Z, Xu Y, You G, Fu Q.
    Dev Dyn; 2021 Sep 23; 250(9):1220-1228. PubMed ID: 33533119
    [Abstract] [Full Text] [Related]

  • 9. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
    Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X.
    Am J Hum Genet; 2007 Feb 23; 80(2):361-71. PubMed ID: 17236141
    [Abstract] [Full Text] [Related]

  • 10. [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
    Zhao XL, Meng JP, Sun M, Ao Y, Wu AH, Lo HY, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb 23; 22(1):5-9. PubMed ID: 15696469
    [Abstract] [Full Text] [Related]

  • 11. Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.
    Xin Q, Li L, Li J, Qiu R, Guo C, Gong Y, Liu Q.
    Gene; 2012 May 10; 499(1):48-51. PubMed ID: 22406499
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
    Zhou X, Zheng C, He B, Zhu Z, Li P, He X, Zhu S, Yang C, Lao Z, Zhu Q, Liu X.
    Bone; 2013 Nov 10; 57(1):237-41. PubMed ID: 23948678
    [Abstract] [Full Text] [Related]

  • 13. Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
    Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK.
    Hum Mutat; 2022 Feb 10; 43(2):189-199. PubMed ID: 34859533
    [Abstract] [Full Text] [Related]

  • 14. [Genetic analysis of a Chinese pedigree with congenital synpolydactyly].
    Qin W, Shu AL, Xing QH, Yang MS, Feng GY, He L.
    Yi Chuan Xue Bao; 2003 Oct 10; 30(10):973-7. PubMed ID: 14669516
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 182(10):2432-2436. PubMed ID: 32789964
    [Abstract] [Full Text] [Related]

  • 16. [Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis].
    Jin H, Lin PF, Wang QM, Mao F, Cai Y, Gong YQ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec 10; 28(6):601-5. PubMed ID: 22161087
    [Abstract] [Full Text] [Related]

  • 17. Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.
    Gong L, Wang B, Wang J, Yu H, Ma X, Yang J.
    Eur J Med Genet; 2011 Dec 10; 54(2):108-11. PubMed ID: 20974300
    [Abstract] [Full Text] [Related]

  • 18. Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly.
    Dai L, Heng ZC, Zhu J, Cai R, Mao M, Wang H, Lin MJ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Jun 10; 22(3):277-80. PubMed ID: 15952114
    [Abstract] [Full Text] [Related]

  • 19. [Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly].
    Li Y, Xin Q, Shan S, Li J, Liu Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug 10; 32(4):481-4. PubMed ID: 26252089
    [Abstract] [Full Text] [Related]

  • 20. A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.
    Jia W, Zhou X, Guo N, Zhang D, Hou M, Luo Y, Peng X, Yang X, Zhang X.
    Am J Med Genet A; 2022 Jan 10; 188(1):31-36. PubMed ID: 34467619
    [Abstract] [Full Text] [Related]

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