 Williams Syndrome
"Williams Syndrome" 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.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
| Descriptor ID |
D018980
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| MeSH Number(s) |
C10.597.606.643.970 C14.280.484.150.535.960 C16.131.260.970 C16.320.180.970
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| Concept/Terms |
Williams Syndrome- Williams Syndrome
- Syndrome, Williams
- Contiguous Gene Syndrome, Williams
- Supravalvar Aortic Stenosis Syndrome
- Williams-Beuren Syndrome
- Syndrome, Williams-Beuren
- Williams Beuren Syndrome
- Beuren Syndrome
- Syndrome, Beuren
- Hypercalcemia-Supravalvar Aortic Stenosis
- Aortic Stenoses, Hypercalcemia-Supravalvar
- Aortic Stenosis, Hypercalcemia-Supravalvar
- Hypercalcemia Supravalvar Aortic Stenosis
- Hypercalcemia-Supravalvar Aortic Stenoses
- Stenoses, Hypercalcemia-Supravalvar Aortic
- Stenosis, Hypercalcemia-Supravalvar Aortic
- Chromosome 7q11.23 Deletion Syndrome
- Williams Contiguous Gene Syndrome
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Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".
This graph shows the total number of publications written about "Williams Syndrome" by people in this website by year, and whether "Williams Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 | | 2009 | 1 | 1 | 2 | | 2013 | 2 | 0 | 2 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 2 | 0 | 2 | | 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Williams Syndrome" by people in Profiles.
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Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Genetics. 2021 02 09; 217(2).
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Twite MD, Stenquist S, Ing RJ. Williams syndrome. Paediatr Anaesth. 2019 05; 29(5):483-490.
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Osso LA, Chan JR. A surprising role for myelin in Williams syndrome. Nat Neurosci. 2019 05; 22(5):681-683.
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Srinivasan S, Howley LW, Cuneo BF, Chatfield KC. In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy. J Perinatol. 2018 11; 38(11):1453-1456.
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Vivanti G, Hocking DR, Fanning PAJ, Uljarevic M, Postorino V, Mazzone L, Dissanayake C. Attention to novelty versus repetition: Contrasting habituation profiles in Autism and Williams syndrome. Dev Cogn Neurosci. 2018 01; 29:54-60.
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Eblovi D, Clardy C. Charles Dickens and Barnaby Rudge: The First Description of Williams Syndrome? Pediatr Ann. 2016 Feb; 45(2):e67-9.
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Hahn LJ, Fidler DJ, Hepburn SL. Adaptive behavior and problem behavior in young children with Williams syndrome. Am J Intellect Dev Disabil. 2014 Jan; 119(1):49-63.
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Pieles GE, Ofoe V, Morgan GJ. Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. Congenit Heart Dis. 2014 May-Jun; 9(3):E85-9.
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Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A. 2013 Mar; 161A(3):527-33.
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Scott DJ, Campbell DN, Clarke DR, Goldberg SP, Karlin DR, Mitchell MB. Twenty-year surgical experience with congenital supravalvar aortic stenosis. Ann Thorac Surg. 2009 May; 87(5):1501-7; discussion 1507-8.
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