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

Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.

Molecular genetics & genomic medicine - 1 Apr 2020

Meier Nicole, Bruder Elisabeth, Miny Peter, Tercanli Sevgi, Filges Isabel

Abstract excerpt

BACKGROUND: Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as...

Read the complete abstract on PubMed

Topics

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

Share to Phenotype
Share to Craniofacial Abnormalities
Share to Exome Sequencing

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

Share to Genetic Testing

Share to Loss of Function Mutation

Share to Smad3 Protein

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 32100971
DOI: 10.1002/mgg3.1178
PMCID: PMC7196462

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 · 12 closest

Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.PMID 32100971Read ↗

Re-focusing on Agnathia-Otocephaly complex.Semantic proximity Read ↗

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Semantic proximity Read ↗

Advances in genetic mechanisms and precision medicine research for cleft lip and palate.Semantic proximity Read ↗

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.Semantic proximity Read ↗

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

Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex.Semantic proximity Read ↗

The developmental biology of genetic Notch disordersSemantic proximity Read ↗

Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.Semantic proximity Read ↗

New insights into craniofacial malformationsSemantic proximity Read ↗

Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype.Semantic proximity Read ↗

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

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.Semantic proximity Read ↗

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