Evidence map›Paper›PMID 39359945›Full record

ArticleMolecular syndromology2024

A Novel Missense Variant in the

Tufail Akbar Mughal, Muhammad Asim, Syed Haseeb Ul Hassan Gillani, Nimra Obaid Chughtai, Syeda Afifa Batool, Amir Hussain, Kulsoom Shujaat, Syed Zohaib Tayyab Gilani

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Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Tufail Akbar MughalDepartment of Zoology, Women University of Azad Jammu and Kashmir, Bagh, Pakistan.
Muhammad AsimDepartment of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
Syed Haseeb Ul Hassan GillaniPolyclinic Hospital, Islamabad, Pakistan.
Nimra Obaid ChughtaiDepartment of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.
Syeda Afifa BatoolDepartment of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.
Amir HussainPakistan Museum of Natural History, Islamabad, Pakistan.
Kulsoom ShujaatDepartment of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.
Syed Zohaib Tayyab GilaniDepartment of Biotechnology Women University of Azad Jammu and Kashmir, Bagh, Pakistan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Spondyloepiphyseal dysplasia (SED) is characterized by skeletal dysplasia and multiple joint dislocations. SEDs encompass various types, such as SED congenita, SED tarda (SED-T), SED with congenital joint dislocations (SED-CJD), SED stanescu, and SED-T with progressive arthropathy. Methods and Results: In the present study, we clinically and genetically characterized a consanguineous Pakistani family with SED-CJD. The affected member showed large joint dislocation, spinal deformities, and previously unreported facial features. Exome sequencing followed by Sanger sequencing revealed a missense variant, [c.601T>A; p.(Tyr201Asn)], in the Conclusion: This study has not only expended the mutation spectrum in the gene

Indexed as

CHST3Exome sequencingNovel variantSanger sequencingSpondyloepiphyseal dysplasia with congenital joint dislocations

Identifiers

PMID39359945
PMCPMC11444709

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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.