Evidence map›Paper›PMID 41664703›Full record

ArticleFrontiers in genetics2026

Case Report: Novel

Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Hsiang-Yu Lin, Shuan-Pei Lin

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2026. 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

9 authors.

Chung-Lin LeeDepartment of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Chih-Kuang ChuangDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Huei-Ching ChiuDepartment of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Ya-Hui ChangDepartment of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Yuan-Rong TuDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Yun-Ting LoInternational Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.
Jun-Yi WuInternational Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.
Hsiang-Yu LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
Shuan-Pei LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Geleophysic dysplasia represents an exceedingly uncommon autosomal recessive skeletal disorder marked by profound growth restriction, contractures affecting multiple joints, and cardiac valve abnormalities. The molecular foundation involves

Indexed as

ADAMTSL2 genegeleophysic dysplasiaglaucomajoint contractureskeratoconus-like corneal ectasiaskeletal dysplasia

Identifiers

PMID41664703
PMCPMC12883250

What OpenQuestion holds

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LicenceCC BY
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.