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

A case of de Barsy syndrome with a severe eye phenotype.

American journal of medical genetics. Part A - 1 Sept 2012

Al-Owain Mohammed, Alanazi Shamsa, Khalifa Ola, Al-Hemidan Amal, Al-Ebdi Loai, Al-Saud Bandar, Alkuraya Fowzan S

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Corneal Opacity
Share to Cutis Laxa
Share to Eye
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Phenotype

Source

Identifiers

PMID: 22887749
DOI: 10.1002/ajmg.a.35507

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of de Barsy syndrome with a severe eye phenotype.PMID 22887749Read ↗

Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases.Semantic proximity Read ↗

Eye signs in a child with ROBO3 gene mutation.Semantic proximity Read ↗

CLINICAL EVALUATION OF GENETIC DISEASES OF THE EYE.Semantic proximity Read ↗

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype.Semantic proximity Read ↗

Genetics of aniridia and anterior segment dysgenesis.Semantic proximity Read ↗

Down syndrome and the eye: Ocular characteristics and ocular assessmentSemantic proximity Read ↗

New ocular phenotype associated with a mutation in the PAX2 gene.Semantic proximity Read ↗

Developmental eye disorders.Semantic proximity Read ↗

A case of Axenfeld-Rieger syndrome (ARS) with asymmetric ocular phenotypes and left glaucomatous optic atrophy.Semantic proximity Read ↗

A novel mutation in PRDM5 in brittle cornea syndrome.Semantic proximity Read ↗

On the expansion of the phenotype of the acro-renal-ocular syndrome.Semantic proximity Read ↗

[Leopard syndrome with clear phenotypic manifestations].Semantic proximity Read ↗

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