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The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C, Nigam C, Moosajee M, Bladen JC. Méjécase C, et al. Genes (Basel). 2021 Mar 4;12(3):364. doi: 10.3390/genes12030364. Genes (Basel). 2021. PMID: 33806295 Free PMC article. Review.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. ...
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder cause
The Genetics and Biology of FOXL2.
Tucker EJ. Tucker EJ. Sex Dev. 2022;16(2-3):184-193. doi: 10.1159/000519836. Epub 2021 Nov 2. Sex Dev. 2022. PMID: 34727551 Free article. Review.
Consistent with its role in ovarian and eyelid development, over 100 germline variants in FOXL2 are associated with blepharophimosis, ptosis, and epicanthus inversus syndrome in humans, an autosomal dominant condition characterised by ova …
Consistent with its role in ovarian and eyelid development, over 100 germline variants in FOXL2 are associated with blepharophimosis, …
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. Jewett T, et al. Am J Med Genet. 1993 Dec 1;47(8):1147-50. doi: 10.1002/ajmg.1320470802. Am J Med Genet. 1993. PMID: 8291545 Review.
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. ...
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay a …
Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literature.
Yu Y, Ji M, Xu W, Zhang L, Qi M, Shu J. Yu Y, et al. J Ovarian Res. 2021 Oct 28;14(1):143. doi: 10.1186/s13048-021-00900-2. J Ovarian Res. 2021. PMID: 34711234 Free PMC article. Review.
BACKGROUND: FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). While type II BPES solely features eyelid abnormality, type I BPES involves not only eyelid but also ovary, leading to primary o …
BACKGROUND: FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome
Wakayama Symposium: Notch-FoxL2-α-SMA axis in eyelid levator muscle development and congenital blepharophimosis.
Liu CY. Liu CY. Ocul Surf. 2012 Oct;10(4):221-3. doi: 10.1016/j.jtos.2012.07.003. Epub 2012 Jul 25. Ocul Surf. 2012. PMID: 23084143 Free PMC article. Review.
This review summarizes our recent findings regarding the Notch signaling pathway in regulating normal eyelid morphogenesis and its role in the pathogenesis of human congenital blepharophimosis, ptosis, and epicanthus inversus syndrome (BP …
This review summarizes our recent findings regarding the Notch signaling pathway in regulating normal eyelid morphogenesis and its role in t …
[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome].
Hirayama T, Kobayashi T, Fujita T, Fujino O. Hirayama T, et al. No To Hattatsu. 2004 May;36(3):253-7. No To Hattatsu. 2004. PMID: 15176598 Review. Japanese.
Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) type I, but not in those with the Ohdo blepharophimosis syndrome (OBS). ...
Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inve