ArticleAmerican journal of human genetics1994
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 31 citations in OpenAlex.
- Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.European journal of human genetics : EJHG · 2009Article
- The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.Journal of medical genetics · 1997Article
- Heterogeneity of the autosomal dominant split hand/split foot malformation.American journal of human genetics · 1995Article
- Non-Mendelian transmission in a human developmental disorder: split hand/split foot.American journal of human genetics · 1994Article
- Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.American journal of human genetics · 1994Article
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-++ +D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for locus heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second locus.
Indexed as
Identifiers
7912888PMC1918225W1528552163What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.