Literature DB >> 6660253

Variable expressivity of the acheiropodia gene.

A Grimaldi, D Masiero, A Richieri-Costa, A Freire-Maia.   

Abstract

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Year:  1983        PMID： 6660253     DOI： 10.1002/ajmg.1320160420

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 in total

1.  Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.

Authors:  P Ianakiev; M J Daly; S P Toledo; M G Cavalcanti; J C Neto; E L Silveira; A Freire-Maia; P Heutink; M W Kilpatrick; P Tsipouras
Journal:  Am J Hum Genet       Date:  2000-11-22       Impact factor: 11.025

2.  Novel bilateral symmetrical congenital transverse upper and lower limb deficiencies in siblings in Ethiopia: two case reports.

Authors:  Amen Samuel Melaku; Fiker Tadesse Bekele; Yilkal Muchie Dires; Laurence Wicks
Journal:  J Med Case Rep       Date:  2022-06-02

3.  Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.

Authors:  R M Clark; P C Marker; E Roessler; A Dutra; J C Schimenti; M Muenke; D M Kingsley
Journal:  Genetics       Date:  2001-10       Impact factor: 4.562
  3 in total

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