ArticleFrontiers in cell and developmental biology2020
A Mutation in
Article in Frontiers in cell and developmental biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed.
- Functional and Genetic Analyses Unveil the Implication ofJournal of developmental biology · 2026Article
- Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Article
- Article
- Beyond the face: multidimensional care challenges and unmet needs in Hemifacial Microsomia families.Frontiers in public health · 2025Article
- Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.medRxiv : the preprint server for health sciences · 2024Article
- Functional and Genetic Analyses Unveil the Implication ofInternational journal of molecular sciences · 2024Article
- Article
- A Proposal for the Classification of Temporomandibular Joint Disc Deformity in Hemifacial Microsomia.Bioengineering (Basel, Switzerland) · 2023Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- Article
- Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36.International journal of molecular sciences · 2022Article
- The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.Life (Basel, Switzerland) · 2022Article
- A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.Human genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHemifacial microsomia (HFM) is a type of rare congenital syndrome caused by developmental disorders of the first and second pharyngeal arches that occurs in one out of 5,600 live births. There are significant gaps in our knowledge of the pathogenic genes underlying this syndrome.
methodsWhole exome sequencing (WES) was performed on five patients, one asymptomatic carrier, and two marry-in members of a five-generation pedigree. Structure of WARP (product of
resultsThrough WES and a set of filtration, we identified a c.G905A:p.R302Q point mutation in a novel candidate pathogenic gene,
conclusionOur data suggest that a mutation in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.