"Blepharophimosis" 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.
The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
Descriptor ID |
D016569
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MeSH Number(s) |
C11.250.090 C11.338.190 C16.131.384.190
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Blepharophimosis".
Below are MeSH descriptors whose meaning is more specific than "Blepharophimosis".
This graph shows the total number of publications written about "Blepharophimosis" by people in this website by year, and whether "Blepharophimosis" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2008 | 1 | 0 | 1 |
2011 | 0 | 1 | 1 |
2012 | 1 | 0 | 1 |
2014 | 1 | 0 | 1 |
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Below are the most recent publications written about "Blepharophimosis" by people in Profiles.
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Further delineation of the KAT6B molecular and phenotypic spectrum. Eur J Hum Genet. 2015 Sep; 23(9):1165-70.
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Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 07; 91(6):998-1010.
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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A. 2011 Aug; 155A(8):1857-64.
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Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19.