 Blepharophimosis
"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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Blepharophimosis" by people in Profiles.
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Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA. Response to Biesecker et?al. Am J Hum Genet. 2021 09 02; 108(9):1807-1808.
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Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerri?re A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347.
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Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A. 2014 Apr; 164A(4):950-7.
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Davies BW, Bratton EM, Durairaj VD, Hink EM. Bilateral Candida and atypical mycobacterial infection after frontalis sling suspension with silicone rod to correct congenital ptosis. Ophthalmic Plast Reconstr Surg. 2013 Jul-Aug; 29(4):e111-3.
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