Evidence map›Paper›PMID 41555919›Full record

ArticleFrontiers in genetics2025

Retinitis pigmentosa and sensorineural deafness associated with a

Lei Wang, Jiyong Gao, Meng Sun, Li Fan, Shuhua Wang, Xue Li, Shuangyu Gu, Bingjuan Han

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2025. 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. Review
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.

Lei Wang *Children's Medical Rehabilitation Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Jiyong Gao *Children's Medical Rehabilitation Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Meng SunNeonatal Disease Screening Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Li FanChildren's Medical Rehabilitation Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Shuhua WangChildren's Medical Rehabilitation Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Xue LiChildren's Medical Rehabilitation Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Shuangyu GuChildren's Medical Rehabilitation Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.
Bingjuan HanChildren's Medical Rehabilitation Center, Jinan Maternal and Child Health Care Hospital, Jinan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Retinitis pigmentosa and sensorineural deafness are two distinct clinical entities that can be caused by a variety of genetic mutations. The Case Presentation: We describe the story of two 2-year-old girls who presented with progressive vision loss and hearing impairment. Both of these cases presented with Conclusion: These cases highlight the importance of genetic testing in patients with combined retinitis pigmentosa and sensorineural deafness. Early identification of the underlying genetic mutation can facilitate appropriate management and genetic counseling for affected individuals and their families. Further research is needed to explore the pathophysiological mechanisms and potential therapeutic targets for

Indexed as

DHX16 gene mutationgenetic testingpediatric caseretinitis pigmentosasensorineural deafness

Identifiers

PMID41555919
PMCPMC12812389

What OpenQuestion holds

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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.