Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Nicolino M, Bost M, David M, Chaussain J L

Abstract excerpt

We report on six young female patients from two families who were found to have a very rare form of ovarian failure. Hypogonadism is inherited with an ocular abnormality consisting of a congenital dysplasia of the eyelids. In one family inheritance is autosomal dominant and in the other it is a de novo mutation. The patients have no other dysmorphic features and are of normal intelligence. Plasma levels of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Adolescent
Share to Follicle Stimulating Hormone

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Karyotyping

Share to Luteinizing Hormone

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 7584707
DOI: 10.1515/jpem.1995.8.2.127

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.PMID 7584707Read ↗

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.Semantic proximity Read ↗

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.Semantic proximity Read ↗

Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.Semantic proximity Read ↗

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.Semantic proximity Read ↗

Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case reportSemantic proximity Read ↗

Genetics of Primary Ovarian Insufficiency.Semantic proximity Read ↗

<i>FOXL2 </i>Impairment in Human DiseaseSemantic proximity Read ↗

FOXL2 mutations and genomic rearrangements in BPES.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.