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

TFAP2A mutations result in branchio-oculo-facial syndrome.

American journal of human genetics - 1 May 2008

Milunsky Jeff M, Maher Tom A, Zhao Geping, Roberts Amy E, Stalker Heather J, Zori Roberto T, Burch Michelle N, Clemens Michele, Mulliken John B, Smith Rosemarie, Lin Angela E

Abstract excerpt

Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) anomalies. The...

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 Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Branchio-Oto-Renal Syndrome

Share to Child, Preschool

Share to Chromosomes, Human, Pair 6

Share to Genetic Linkage

Share to Transcription Factor AP-2

Source

Open in PubMed Open full text

Identifiers

PMID: 18423521
DOI: 10.1016/j.ajhg.2008.03.005
PMCID: PMC2427243

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TFAP2A mutations result in branchio-oculo-facial syndrome.PMID 18423521Read ↗

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

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

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.Semantic proximity Read ↗

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

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

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

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.Semantic proximity Read ↗

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

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.Semantic proximity Read ↗

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

6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.Semantic proximity Read ↗

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