Evidence map›Paper›PMID 41536659›Full record

ReviewSichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition2025

[Case Report of One Family With Coffin-Lowry Syndrome and Literature Review of 28 Cases in China].

Diling Zhu, Wenxu Yang, Lan Zhang

Abstract readCase ReportsReviewEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Review in Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition, 2025. 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

3 authors.

Diling Zhu· （ 611731） Department of Child Health Care, Chengdu Women's and Children's Central Hospital, Affiliated Women's and Children's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 611731, China.ORCID 0009-0002-3035-6430
Wenxu Yang· （ 611731） Department of Child Health Care, Chengdu Women's and Children's Central Hospital, Affiliated Women's and Children's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 611731, China.
Lan Zhang· （ 611731） Department of Child Health Care, Chengdu Women's and Children's Central Hospital, Affiliated Women's and Children's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 611731, China.ORCID 0009-0005-7436-3458

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To investigate the clinical phenotypes and genotypic characteristics of Chinese patients with Coffin-Lowry syndrome. Methods: The clinical data and genetic test results of a family with Coffin-Lowry syndrome were retrospectively analyzed. A literature review was conducted to summarize the clinical characteristics and gene mutation characteristics of patients with Coffin-Lowry syndrome in China. Results: The proband was a 1-year-old boy with distinctive facial features, puffy but tapered fingers, hypotonia, growth retardation, and delayed cognitive and motor development. Genetic analysis revealed a hemizygous Conclusion: Coffin-Lowry syndrome should be considered in children with cognitive and language/motor developmental delays, distinctive facial features, tapered fingers, and hypotonia. Genetic testing can assist with early diagnosis.

Indexed as

Coffin-Lowry SyndromeRibosomal Protein S6 Kinases, 90-kDaChild, PreschoolChinaFemaleHumansInfantMaleMutationPedigreePhenotyperibosomal protein S6 kinase, 90kDa, polypeptide 3Ribosomal Protein S6 Kinases, 90-kDaCoffin-Lowry syndromeHigh-throughput sequencingRPS6KA3 gene

Identifiers

PMID41536659
PMCPMC12796916

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.