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blepharophimosis相关文献:
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome.
Verdin H, Matton C, De Baere E.
2004 Jul 8 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301614
Blepharophimosis Syndrome.
Neuhouser AJ, Zeppieri M, Harrison AR.
2024 Nov 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:37276318
Blepharophimosis.
FOX SA.
Am J Ophthalmol. 1963 Mar;55:469-75.
PMID:13959047
The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Tyers AG.
Orbit. 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266.
PMID:21957947
[Blepharophimosis, epicanthus inversus, and ptosis syndrome(BPES)].
Inazawa J, Fukushima Y.
Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):274-6.
PMID:11057226
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Skinner C, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Faivre L, Weber S, Vincent-Devulder A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N.
Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 17.
PMID:38884529
Blepharophimosis-ptosis-epicanthus inversus syndrome.
Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA.
Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x.
PMID:21696507
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Strømme P, Sandboe F.
Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x.
PMID:8689480
[Blepharophimosis-ptosis-epicanthus inversus syndrome].
Lišková P, Ďuďáková Ľ, Diblík P.
Cesk Slov Oftalmol. 2016 Fall;72(5):187-190.
PMID:28224805
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C, Nigam C, Moosajee M, Bladen JC.
Genes (Basel). 2021 Mar 4;12(3):364. doi: 10.3390/genes12030364.
PMID:33806295
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