Article
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
American journal of human genetics - 1 Jan 2001
Ianakiev P, van Baren MJ, Daly M J, Toledo S P, Cavalcanti M G, Neto J C, Silveira E L, Freire-Maia A, Heutink P, Kilpatrick M W, Tsipouras P
Abstract excerpt
Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the...
Topics
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- Consanguinity
- DNA Mutational Analysis
- Exons
- Female
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Haplotypes