ArticleCase reports in immunology2026
A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1.
Article in Case reports in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Griscelli syndrome (GS) is a rare autosomal recessive disorder, characterized by pigmentary dilution of hair and skin. There are three known types of this disease. GS type 1 (GS1), due to mutations in Case Presentation: We report a 27‑month‑old Afghan girl, born to consanguineous parents, presenting with developmental delay and hypotonia without the classic silvery hair. A complete evaluation was performed to determine the cause of the developmental delay. Whole exome sequencing revealed a novel homozygous MYO5A variant (c.3508C >T), confirming GS1. Despite the absence of the characteristic silvery hair, microscopic hair examination of the patient showed melanin distribution abnormalities. Conclusion: This case highlights the phenotypical variability in GS1 and emphasizes on the importance of considering genetic testing even in atypical presentations. Exploring these novel mutations can expand the known genotype/phenotype spectrum of GS1.
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.