Activins were discovered and, in fact, named more than a quarter century ago based on their
abilities to stimulate pituitary follicle-stimulating hormone (FSH) synthesis and secretion …

Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial
disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows …

The blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare autosomal
dominant disease mainly caused by FOXL2 variants. This genetic disorder is usually …

Abstract Background/Aims: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically …

Sir, Dowling-Degos disease (DDD) is a rare, autosomal dominant genodermatosis with
variable phenotypic expression characterized by reticular hyperpigmentation of flexures …

Background Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare
inheritable disease that mainly affects eyelid development associated with (type I) or without …

A 14-year-old male presented to the outpatient department of ophthalmology with
complaints of visual impairment. The patient was assessed with a detailed history and …

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal
dominantly inherited congenital malformation of the eyelids. Diagnostic criteria include …

Methods Four Han Chinese families with blepharophimosis syndrome were ascertained and
patients underwent complete physical and ophthalmic examinations. Blood samples were …