 Skin Abnormalities
"Skin Abnormalities" 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 abnormalities of the skin.
| Descriptor ID |
D012868
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| MeSH Number(s) |
C16.131.831 C17.800.804
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Skin Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Skin Abnormalities".
This graph shows the total number of publications written about "Skin Abnormalities" by people in this website by year, and whether "Skin Abnormalities" 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 |
|---|
| 1995 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 2005 | 0 | 1 | 1 | | 2008 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Skin Abnormalities" by people in Profiles.
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Moog U, Dobyns WB. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):414-422.
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Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. Clin Genet. 2017 Dec; 92(6):624-631.
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Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265.
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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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Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21.
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Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997 May 02; 70(1):67-73.
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Guo L, Degenstein L, Dowling J, Yu QC, Wollmann R, Perman B, Fuchs E. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell. 1995 Apr 21; 81(2):233-43.
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