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blepharophimosis相关文献:
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
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
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-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.
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].
Lišková P, Ďuďáková Ľ, Diblík P.
Cesk Slov Oftalmol. 2016 Fall;72(5):187-190.
PMID:28224805
A case of blepharophimosis: Freeman Sheldon syndrome.
Bowman S, Noble G, Rahmani B, Mets M, Ralay Ranaivo H, Castelluccio V.
Ophthalmic Genet. 2022 Feb;43(1):130-133. doi: 10.1080/13816810.2021.1989603. Epub 2021 Oct 19.
PMID:34664542
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
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.
Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenati MJ.
Am J Med Genet. 1993 Dec 1;47(8):1147-50. doi: 10.1002/ajmg.1320470802.
PMID:8291545
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