Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P.
Am J Hum Genet. 2001 Jan;68(1):38-45. doi: 10.1086/316955. Epub 2000 Nov 22.
Acheiropodia: new cases from Brazil.
Silveira EL, Freire-Maia A.
Clin Genet. 1998 Sep;54(3):256-7. doi: 10.1111/j.1399-0004.1998.tb04299.x.
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.
Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Shen Y, Lettice LA, Silveira-Lucas EL, Petit F, Ahituv N.
Nat Commun. 2021 Apr 16;12(1):2282. doi: 10.1038/s41467-021-22470-z.
[Acheiropodia: first case report in Argentina].
Ormazabal M, Vaccari N, Szulepa R, Bidondo MP, Barbero P, Groisman B.
Arch Argent Pediatr. 2015 Oct;113(5):e299-303. doi: 10.5546/aap.2015.e299.
A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.
Escamilla MA, DeMille MC, Benavides E, Roche E, Almasy L, Pittman S, Hauser J, Lew DF, Freimer NB, Whittle MR.
Am J Hum Genet. 2000 Jun;66(6):1995-2000. doi: 10.1086/302921. Epub 2000 Apr 25.
Genetics of acheiropodia (the handless and footless families of Brazil).
Freire-Maia A.
Clin Genet. 1975 Feb;7(2):98-102.
Acheiropodia in Junqueiro sonnet?
Frota-Pessoa O.
Am J Med Genet. 1981;10(4):407-8. doi: 10.1002/ajmg.1320100414.
Acheiropodia: report on four new Brazilian patients.
Fett-Conte AC, Richieri-Costa A.
Am J Med Genet. 1990 Jul;36(3):341-4. doi: 10.1002/ajmg.1320360320.
Genetics of acheiropodia ("The handless and footless families of Brazil"): X. Roentgenologic study.
Freire-Maia A, Laredo-Filho J, Freire-Maia N.
Am J Med Genet. 1978;2(4):321-30. doi: 10.1002/ajmg.1320020402.
Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics.
Freire-Maia A, Li WH, Maruyama T.
Am J Hum Genet. 1975 Sep;27(5):665-75.
