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

Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.

BMC pregnancy and childbirth - 17 Nov 2021

Liu Xiaoliang, Sun Wei, Wang Jun, Chu Guoming, He Rong, Zhang Bijun, Zhao Yanyan

Abstract excerpt

BACKGROUND: Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a case of prenatal genetic diagnosis of ACS carrying a novel GNAI3 variant. CASE PRESENTATION: A woman with 30 weeks of gestation was referred to genetic...

Read the complete abstract on PubMed

Topics

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

Share to Ear
Share to Fetal Diseases
Share to GTP-Binding Protein alpha Subunits, G12-G13

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Micrognathism

Share to Mutation, Missense

Share to Phenotype

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 34789173
DOI: 10.1186/s12884-021-04238-x
PMCID: PMC8597305

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.PMID 34789173Read ↗

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.Semantic proximity Read ↗

Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report.Semantic proximity Read ↗

Novel GNAI3 mutation in a Chinese auriculocondylar syndrome family and treatment of severe dentofacial deformities: A 5-years follow-up case reportSemantic proximity Read ↗

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.Semantic proximity Read ↗

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar 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 ↗

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.Semantic proximity Read ↗

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

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.Semantic proximity Read ↗

A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.Semantic proximity Read ↗

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.Semantic proximity Read ↗

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