ArticleCase reports in pediatrics2017
Atypical Presentation of Sjögren-Larsson Syndrome.
Article in Case reports in pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome.Molecular syndromology · 2026Article
- Beyond retina in Sjogren-Larsson syndrome.Indian journal of ophthalmology · 2022Article
- Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.Molecular genetics & genomic medicine · 2020Article
- Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.JIMD reports · 2020Article
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.
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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.