ArticleClinical case reports2017
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report.
Article in Clinical case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed, 12 citations in OpenAlex.
- Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish.Frontiers in molecular neuroscience · 2026Review
- Functional Relationships between L1CAM, LC3, ATG12, and Aβ.International journal of molecular sciences · 2024Article
- Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities.Biomolecules · 2024Article
- Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.Turkish archives of pediatrics · 2022Article
- Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.Molecular genetics & genomic medicine · 2022Article
- L1CAM variants cause two distinct imaging phenotypes on fetal MRI.Annals of clinical and translational neurology · 2021Article
- Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novelClinical case reports · 2021Article
- Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.Clinical genetics · 2019Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole-exome sequencing.
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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.