ArticleCureus2022
A Missense Mutation in LMX1A in a Patient With Moebius Syndrome: A Case Report.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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
2 citing papers in PubMed, 2 citations in OpenAlex.
- Craniofacial Characteristics and Orthodontic Management in a Patient With Moebius Syndrome: A Case Report.Clinical case reports · 2026Article
- Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.Genes · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Moebius syndrome is characterized by congenital complete or partial paralysis of the facial nerve and is often associated with orofacial and limb malformations. It is a rare syndrome that affects the sixth and seventh cranial nerves. Facial paralysis results in abnormal abduction of one or both eyes and facial paralysis or weakness. Moebius syndrome is an uncommon condition and only a few hundred cases have been reported in the literature. A seven-year-old girl with Moebius syndrome is featured in this report. She had asymmetrical facial expressions, ocular abduction anomalies, and swallowing difficulties. She also had mild low-set ears, hypertelorism, a short nose, and restricted jaw movements. Array-comparative genomic hybridization analysis of exosome sequencing showed a mutation p.Gln61Arg in exon 3 of
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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.