"Limb Deformities, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
| Descriptor ID |
D017880
|
| MeSH Number(s) |
C05.660.585 C16.131.621.585
|
| Concept/Terms |
Limb Deformities, Congenital- Limb Deformities, Congenital
- Congenital Limb Deformities
- Congenital Limb Deformity
- Deformities, Congenital Limb
- Deformity, Congenital Limb
- Limb Deformity, Congenital
|
Below are MeSH descriptors whose meaning is more general than "Limb Deformities, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Limb Deformities, Congenital".
This graph shows the total number of publications written about "Limb Deformities, Congenital" by people in this website by year, and whether "Limb Deformities, Congenital" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 0 | 1 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2011 | 0 | 1 | 1 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
| 2022 | 1 | 1 | 2 |
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Below are the most recent publications written about "Limb Deformities, Congenital" by people in Profiles.
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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling. Genet Med. 2022 08; 24(8):1708-1721.
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Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation. Birth Defects Res. 2022 06; 114(10):478-486.
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Genome sequencing in families with congenital limb malformations. Hum Genet. 2021 Aug; 140(8):1229-1239.
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Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. Pan Afr Med J. 2021; 39:21.
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HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res. 2019 06 01; 111(10):591-597.
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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Hum Mutat. 2018 09; 39(9):1246-1261.
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Noncoding copy-number variations are associated with congenital limb malformation. Genet Med. 2018 06; 20(6):599-607.
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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res. 2016 Feb; 26(2):183-91.
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 07; 96(5):765-74.
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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014 Sep 04; 95(3):285-93.
MeSH information
