Disease: Auriculo-condylar syndrome
- A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity
- A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2
- A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
- Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature
- Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants
- Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies
- Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant
- Dominant-negative Gα subunits are a mechanism of dysregulated heterotrimeric G protein signaling in human disease
- Focus Issue: New insights in GPCR to G protein signaling
- Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
- Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review
- Genetic factors in isolated and syndromic laryngeal cleft
- Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome
- New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving <em>TWIST1</em> regulatory elements
- Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report
- Preferences for treatment among adolescents with Type 1 diabetes: a national study using a discrete choice experiment model
- Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
- Question Mark Ear: An Unusual Anomaly and a Novel Surgical Technique for Reconstruction
- Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
- The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function