Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Blepharophimosis

Known as: Decreased width of palpebral fissure, Blepharophimosis [Disease/Finding], Narrow opening between the eyelids 
The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2005
Highly Cited
2005
Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity… Expand
Is this relevant?
Highly Cited
2004
Highly Cited
2004
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a human disorder caused by mutations in the forkhead transcription… Expand
Is this relevant?
Highly Cited
2002
Highly Cited
2002
ABSTRACT Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a… Expand
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Mutations in the FOXL2 gene have recently been shown to cause the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a… Expand
Is this relevant?
Highly Cited
2001
Highly Cited
2001
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • table 3
Is this relevant?
Highly Cited
1988
Highly Cited
1988
Un cas chez une fille est presentee. Zlotogora et coll. ont individualise 2 types. De nombreux enfants necessitent une… Expand
Is this relevant?
Highly Cited
1983
Highly Cited
1983
The blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is rare and autosomal dominant. A family is presented and… Expand
Is this relevant?