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

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

4 Oct 2013

Abstract excerpt

Among human birth defect syndromes, malformations affecting the face are perhaps the most striking due to cultural and psychological expectations of facial shape. One such syndrome is auriculocondylar syndrome (ACS), in which patients present with defects in ear and mandible development. Affected structures arise from cranial neural crest cells, a population of cells in the embryo that reside in the pharyngeal...

Read the complete abstract on PubMed

Topics

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

Share to Cleft Lip and Palate Research
Share to Congenital Ear and Nasal Anomalies
Share to Craniofacial Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24123988
DOI: 10.1002/ajmg.c.31376

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studiesPMID 24123988Read ↗

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.Semantic proximity Read ↗

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.Semantic proximity Read ↗

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.Semantic proximity Read ↗

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.Semantic proximity Read ↗

Auriculocondylar Syndrome: Pathogenesis, Clinical manifestations and Surgical therapiesSemantic proximity Read ↗

Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.Semantic proximity Read ↗

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.Semantic proximity Read ↗

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex diseaseSemantic proximity Read ↗

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.Semantic proximity Read ↗

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.Semantic proximity Read ↗

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostosesSemantic proximity Read ↗

Understanding endothelin-1 function during craniofacial development in the mouse and zebrafish.Semantic proximity Read ↗

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