Evidence map›Paper›PMID 39891458›Full record

ArticleArchives of Iranian medicine2024

First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.

Azadeh Reshadmanesh, Shima Dehdahsi, Fatemeh Ahangari, Kimia Kahrizi, Ariana Kariminejad, Shokouh Sadat Mahdavi, Saeed Talebi, Hossein Najmabadi

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Archives of Iranian medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Azadeh ReshadmaneshGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.ORCID 0009-0004-2401-6602
Shima DehdahsiKariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.ORCID 0009-0005-8188-5019
Fatemeh AhangariKariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Kimia KahriziGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Ariana KariminejadKariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Shokouh Sadat MahdaviGenetic Clinic of Tehran Welfare Organization, Tehran, Iran.
Saeed TalebiDepartment of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-8055-9335
Hossein NajmabadiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.ORCID 0000-0002-6084-7778

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here, we report a case with concomitant variants: a novel homozygous

Indexed as

Charcot-Marie-Tooth DiseaseMegalencephalyMyelin ProteinsPsychomotor DisordersUbiquitin-Protein LigasesChild, PreschoolDevelopmental DisabilitiesExome SequencingHumansIranMalePhenotypeMyelin ProteinsPMP22 protein, humanUbiquitin-Protein LigasesCharcot–Marie–Tooth diseasesConcomitant variantsWhole exome sequencing

Identifiers

PMID39891458
PMCPMC11786211

What OpenQuestion holds

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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.