ArticleJournal of anatomy2003
Why study human limb malformations?
Article in Journal of anatomy, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 41 citations in OpenAlex.
- The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Article
- Alcohol consumption before pregnancy causes detrimental fetal development and maternal metabolic disorders.Scientific reports · 2020Article
- Genome Editing in hPSCs Reveals GATA6 Haploinsufficiency and a Genetic Interaction with GATA4 in Human Pancreatic Development.Cell stem cell · 2017Article
- Hand/foot splitting and the 're-evolution' of mesopodial skeletal elements during the evolution and radiation of chameleons.BMC evolutionary biology · 2015Article
- Advances in the Molecular Genetics of Non-syndromic Syndactyly.Current genomics · 2015Article
- Human pluripotent stem cells: an emerging model in developmental biology.Development (Cambridge, England) · 2013Review
- Syndactyly: phenotypes, genetics and current classification.European journal of human genetics : EJHG · 2012Review
- Thalidomide induces limb defects by preventing angiogenic outgrowth during early limb formation.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Sall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activities.Development (Cambridge, England) · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena.
Indexed as
Identifiers
What 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.