Hand Deformities, Congenital
"Hand 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.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
| Descriptor ID |
D006228
|
| MeSH Number(s) |
C05.390.408 C05.660.585.988.425 C16.131.621.585.988.500
|
| Concept/Terms |
Hand Deformities, Congenital- Hand Deformities, Congenital
- Congenital Hand Deformity
- Deformity, Congenital Hand
- Hand Deformity, Congenital
- Congenital Hand Deformities
- Deformities, Congenital Hand
|
Below are MeSH descriptors whose meaning is more general than "Hand Deformities, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Hand Deformities, Congenital".
This graph shows the total number of publications written about "Hand Deformities, Congenital" by people in this website by year, and whether "Hand Deformities, Congenital" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 1999 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2016 | 1 | 1 | 2 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hand Deformities, Congenital" by people in Profiles.
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Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. J Hum Genet. 2018 Apr; 63(4):517-520.
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[Regulatory effect of faciogenital dysplasia 6 gene on hepatic stem cell differentiation]. Zhonghua Gan Zang Bing Za Zhi. 2017 Apr 20; 25(4):268-272.
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Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. 2016 Oct 13; 538(7624):265-269.
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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. Hum Mutat. 2016 Mar; 37(3):301-7.
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Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8.
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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov; 58(5):981-6.
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Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet. 2004 Nov 15; 13(22):2841-51.
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Vertebral anomalies in a new family with ODED syndrome. Clin Genet. 2000 Jun; 57(6):444-8.
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Deletion of 1q in a patient with acrofacial dysostosis. Am J Med Genet. 1999 Feb 12; 82(4):301-4.
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Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. Am J Med Genet. 1997 Dec 19; 73(3):279-85.