 Limb Deformities, Congenital
"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
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| MeSH Number(s) |
C05.660.585 C16.131.621.585
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| Concept/Terms |
Limb Deformities, Congenital- Limb Deformities, Congenital
- Congenital Limb Deformities
- Congenital Limb Deformity
- Deformities, Congenital Limb
- Deformity, Congenital Limb
- Limb Deformity, Congenital
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1988 | 1 | 0 | 1 | | 1991 | 1 | 0 | 1 | | 1993 | 0 | 2 | 2 | | 1997 | 1 | 0 | 1 | | 1998 | 0 | 1 | 1 | | 2004 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2008 | 2 | 0 | 2 | | 2011 | 2 | 0 | 2 | | 2012 | 1 | 1 | 2 | | 2015 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 |
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Below are the most recent publications written about "Limb Deformities, Congenital" by people in Profiles.
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Whittington A, Stein S, Kenner-Bell B. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. Pediatr Dermatol. 2016 Sep; 33(5):e322-6.
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Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Hum Mutat. 2015 Dec; 36(12):1150-4.
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Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct; 158A(10):2393-406.
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O'Connor MB, Murphy M, Phelan MJ. VACTERL association or VATER syndrome. Ir Med J. 2012 Sep; 105(8):284-5.
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Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X. Finding disease variants in Mendelian disorders by using sequence data: methods and applications. Am J Hum Genet. 2011 Dec 09; 89(6):701-12.
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Friedland-Little JM, Hoffmann AD, Ocbina PJ, Peterson MA, Bosman JD, Chen Y, Cheng SY, Anderson KV, Moskowitz IP. A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. Hum Mol Genet. 2011 Oct 01; 20(19):3725-37.
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Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL. Microphthalmia with linear skin defects: a case report and review. Pediatr Dermatol. 2008 Sep-Oct; 25(5):548-52.
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Friedli M, Nikolaev S, Lyle R, Arcangeli M, Duboule D, Spitz F, Antonarakis SE. Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mamm Genome. 2008 Apr; 19(4):272-8.
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Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906.
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Zuniga A, Michos O, Spitz F, Haramis AP, Panman L, Galli A, Vintersten K, Klasen C, Mansfield W, Kuc S, Duboule D, Dono R, Zeller R. Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression. Genes Dev. 2004 Jul 01; 18(13):1553-64.
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