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Acheiropodia

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Genetic Syndromes

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OMIM: #200500

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References

  • Escamilla MA, DeMille MC, Benavides E, Roche E, Almasy L, Pittman S, … Whittle MR (2000) A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis. Am J Hum Genet 66(6):1995–2000. https://doi.org/10.1086/302921

  • Freire-Maia A (1981) Historical note: the extraordinary handless and footless families of Brazil – 50 years of acheiropodia. Am J Med Genet 9(1):31–41. https://doi.org/10.1002/ajmg.1320090108

    Article  CAS  Google Scholar 

  • Freire-Maia A, Freire-Maia N, Morton NE, Azevêdo ES, Quelce-Salgado A (1975a) Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis. Am J Hum Genet 27(4):521–527

    CAS  Google Scholar 

  • Freire-Maia A, Freire-Maia N, Schull WJ (1975b) Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling. Hum Hered 25(4):329–336. https://doi.org/10.1159/000152743

    Article  CAS  Google Scholar 

  • Freire-Maia A, Li WH, Maruyama T (1975c) Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics. Am J Hum Genet 27(5):665–675

    CAS  Google Scholar 

  • Freire-Maia A, Laredo-Filho J, Freire-Maia N (1978) Genetics of acheiropodia (“the handless and footless families of Brazil”): X. Roentgenologic study. Am J Med Genet 2(4):321–330. https://doi.org/10.1002/ajmg.1320020402

    Article  CAS  Google Scholar 

  • Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, … Tsipouras P (2001) Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet 68(1):38–45. https://doi.org/10.1086/316955

  • Toledo SP, Saldanha PH (1969) A radiological and genetic investigation of acheiropody in a kindred including six cases. J Genet Hum 17(1):81–94

    CAS  Google Scholar 

  • Toledo SP, Saldanha PH, Borelli A, Cintra AB (1972) Further data on acheiropody. J Genet Hum 20(3):253–258

    CAS  Google Scholar 

  • Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, … Ahituv N (2021) Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12(1):2282. https://doi.org/10.1038/s41467-021-22470-z

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Authors and Affiliations

  1. Tehran University of Medical Sciences, Tehran, Iran

    Kimia Darmiani

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  1. Kimia Darmiani
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Editors and Affiliations

  1. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

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Darmiani, K. (2023). Acheiropodia. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1374-1

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  • DOI: https://doi.org/10.1007/978-3-319-66816-1_1374-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-66816-1

  • Online ISBN: 978-3-319-66816-1

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