Blepharophimosis Syndrome.
Neuhouser AJ, Zeppieri M, Harrison AR.
2024 Nov 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S.
Adv Exp Med Biol. 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27.
Wakayama Symposium: Notch-FoxL2-alpha-SMA axis in eyelid levator muscle development and congenital blepharophimosis.
Liu CY.
Ocul Surf. 2012 Oct;10(4):221-3. doi: 10.1016/j.jtos.2012.07.003. Epub 2012 Jul 25.
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.
A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.
Gupta N, Ganesh S, Singla P, Kumar S.
Eur J Ophthalmol. 2021 Mar;31(2):NP8-NP11. doi: 10.1177/1120672119886427. Epub 2019 Nov 22.
Single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients.
Mehta A, Naik M, Agarwal S.
Taiwan J Ophthalmol. 2021 Apr 17;12(1):82-87. doi: 10.4103/tjo.tjo_6_21. eCollection 2022 Jan-Mar.
Management of congenital lacrimal gland agenesis in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Delle Fave M, Cordonnier M, Polyanina M, Kallay O.
J Fr Ophtalmol. 2021 Mar;44(3):e159-e161. doi: 10.1016/j.jfo.2020.06.007. Epub 2021 Jan 8.
Kaufman Oculocerebrofacial Syndrome.
Brabbing-Goldstein D, Basel-Salmon L.
2016 Oct 20 [updated 2022 Jul 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
MED12-Related Disorders.
Lyons MJ.
2008 Jun 23 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
MARK3 kinase: Regulation and physiologic roles.
Yang J, Niu H, Pang S, Liu M, Chen F, Li Z, He L, Mo J, Yi H, Xiao J, Huang Y.
Cell Signal. 2023 Mar;103:110578. doi: 10.1016/j.cellsig.2022.110578. Epub 2022 Dec 26.
