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BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

Known as: Blepharophimosis Syndrome, Blepharophimosis, Ptosis, and Epicanthus Inversus Type I, BPES 
National Institutes of Health

Related topics

Related topics

17 relations
AmenorrheaAutosomal dominant inheritanceBlepharoptosisByzanthine arch palate

Broader (4)

BlepharophimosisEyelid DiseasesSkin AbnormalitiesUrogenital Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.
BACKGROUND Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type I is a rare disorder that causes a recognizable… 
2006
2006
Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by blepharophimosis… 
2005
2005
A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.
Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is… 
2003
2003
Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis‐Ptosis… 
Review
2003
Review
2003
Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: Further delineation of the phenotype
Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis–ptosis… 
1998
1998
A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse.
Homeodomain (HD) proteins are transcription regulators controlling a variety of cell fates. The HD region characterizing this… 
1998
1998
Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
BACKGROUND Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome… 
1997
1997
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion
Abstract Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis… 
1993
1993
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?
We report on a girl with the blepharophimosis sequence (BPES), microcephaly of postnatal onset, mild developmental retardation… 
1991
1991
Further evidence for the location of the BPES gene at 3q2.
Nilbert et al3 reported a uterine leiomyosarcoma with a t(8;13). In addition, several uterine leiomyomas with structural or… 
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