Evidence map›Paper›PMID 37288014›Full record

ArticleAdvanced biomedical research2023

A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of

Mahdieh Hassani, Sara Taghizadeh, Anahita Farahzad Broujeni, Mahvash Habibi, Setareh Banitalebi, Mahbubeh Kasiri, Alireza Sadeghi, Ahoura Nozari

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In one paragraph

Article in Advanced biomedical research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 25% of its field
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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. A novel compound heterozygous mutation inInternational journal of ophthalmology · 2026
    Article
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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 at 3 institutions in 1 country.

Mahdieh HassaniDepartment of Medical Genetics, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
Sara TaghizadehTranslational Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Anahita Farahzad BroujeniShahrekord Neuroscience Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Mahvash HabibiDepartment of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran.
Setareh BanitalebiDepartment of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran.
Mahbubeh KasiriDepartment of Medical Genetics, Medical Genetics Laboratory, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Alireza SadeghiDepartment of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran.
Ahoura NozariDepartment of Medical Genetics, Sadra Medical Genetics Lab, Shahrekord, Iran.
Shahrekord University of Medical Sciences · IRIlam University · IRTehran University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital heart defects, and eye abnormalities. This disorder is inherited in two different modes; the autosomal dominant form of the disease occurs due to a mutation in Materials and Methods: The family recruited in this study was a consanguineous Iranian family with an intellectually disabled girl referred to the Sadra Genetics laboratory, Shahrekord, Iran. The clinical history of family members was investigated. Whole-Exome Sequencing (WES) for the proband was performed. Sanger sequencing was used to assess the segregation of candidate variants in the other family members. Results: Whole-exome sequencing analysis revealed a novel heterozygote mutation in the proband located at the third TGF-β-binding protein-like (TB) domain of the Conclusion: Our findings represent an autosomal dominant form of specific WMS resulting from a substitution mutation in the

Indexed as

FBN1intellectual disabilityWeill-Marchesani syndromewhole-exome sequencing

Identifiers

PMID37288014
PMCPMC10241635
OpenAlexW4367334404

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.