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

[New oral manifestations of Branchio-oculo-facial syndrome. Case report].

Archivos argentinos de pediatria - 1 Jan 2015

García Flores Juan B, Escamilla Ocañas César E, Martínez Menchaca Héctor R, Treviño Alanís Ma Guadalupe, Rivera Silva Gerardo

Abstract excerpt

The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It is associated with alterations in TFAP2A gene. We present a patient with 9 years of age with...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Branchio-Oto-Renal Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 25622170
DOI: 10.5546/aap.2015.e14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[New oral manifestations of Branchio-oculo-facial syndrome. Case report].PMID 25622170Read ↗

[Branchio-oculo-facial syndrome].Semantic proximity Read ↗

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.Semantic proximity Read ↗

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.Semantic proximity Read ↗

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.Semantic proximity Read ↗

Branchio-oculo-facial syndrome.Semantic proximity Read ↗

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review.Semantic proximity Read ↗

TFAP2A Mutations Result in Branchio-Oculo-Facial SyndromeSemantic proximity Read ↗

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.Semantic proximity Read ↗

Genotype-phenotype analysis of the branchio-oculo-facial syndrome.Semantic proximity Read ↗

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.Semantic proximity Read ↗

Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.Semantic proximity Read ↗

[Oral-facial-digital syndrome type I. A case report].Semantic proximity Read ↗

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