Evidence map›Paper›PMID 42893062›Full record

ArticleClinical case reports2026

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report.

Khadeeja Nofal, Hamza M A Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta

Abstract read
In one paragraph

Article in Clinical case reports, 2026. 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
–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

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

6 authors.

Khadeeja NofalCollege of Medicine and Health Sciences Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0008-4098-5058
Hamza M A GhaithCollege of Medicine and Health Sciences Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0001-8918-0540
Haneen Abdullatif BarghouthiCollege of Medicine and Health Sciences Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0003-9929-3789
Mohammad ShahroriCollege of Medicine and Health Sciences Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0003-4264-1746
Batool DarrajCollege of Medicine and Health Sciences Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0004-6600-0051
Anwar Abu HettaDepartment of Pediatrics Alia Governmental Hospital Hebron Palestine.ORCID https://orcid.org/0009-0009-1921-4328

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 3-year-old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous

Indexed as

case reportCOL6A1congenital hypotoniaUllrich congenital muscular dystrophyvariant of uncertain significancewhole exome sequencing

Identifiers

PMID42893062
PMCPMC13675840

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.