Evidence map›Paper›PMID 38468954›Full record

ArticleHeliyon2024

A novel heterozygous frameshift mutation in the

Jiali Liang, Ronghua Li, Chenmei Liu, Yan Cai, Yifei Liu, Pingjiao Chen, Kang Zeng, Changxing Li

Open access · goldAbstract readCase Reports
In one paragraph

Article in Heliyon, 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
–field-weighted citation impact, top 97% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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 at 2 institutions in 1 country.

Jiali LiangDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Ronghua LiDepartment of Dermatology, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, 362002, China.
Chenmei LiuDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Yan CaiDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Yifei LiuDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Pingjiao ChenDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Kang ZengDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Changxing LiDepartment of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China.
Nanfang Hospital · CNFujian Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and cutaneous cysts. And fissured tongue is rarely reported in patients with pachyonychia congenita. The disease is primarily associated with mutations in five keratin genes, namely

Indexed as

Fissured tongueGenodermatosisKeratinKRT6APachyonychia congenita

Identifiers

PMID38468954
PMCPMC10926126
OpenAlexW4392365394

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.