Evidence map›Paper›PMID 41113320›Full record

ArticleClinical case reports2025

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings.

Raha Ahmadi, Mohammad Javad Bavarsad, Meysam Feizollah Jani, Reza Azizimalamiri

Erratum issuedAbstract read
In one paragraph

Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Raha AhmadiDepartment of Pediatric Neurology, Golestan Medical, Educational, and Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.
Mohammad Javad BavarsadDepartment of Pediatric Neurology, Golestan Medical, Educational, and Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.ORCID https://orcid.org/0009-0000-4732-1328
Meysam Feizollah JaniDepartment of Pediatric Neurology, Golestan Medical, Educational, and Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.
Reza AzizimalamiriDepartment of Pediatric Neurology, Golestan Medical, Educational, and Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.ORCID https://orcid.org/0000-0001-5423-6375

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early-onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare disorder.

Indexed as

deafnessdystoniaFITM2ichthyosisIranSiddiqi syndrome

Identifiers

PMID41113320
PMCPMC12527979

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Registered trials

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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.