Evidence map›Paper›PMID 39959165›Full record

ReviewMolecular vision2024

Complex genomic rearrangement with deletion of

Zhen Jiang, Ya Zhang, Liqin Wang, Hong Yang, Ling Yu

Abstract readCase ReportsReview
PubMed Full text at PMC
In one paragraph

Review in Molecular vision, 2024. 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

5 authors.

Zhen JiangDepartment of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan Province, China.
Ya ZhangDepartment of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan Province, China.
Liqin WangDepartment of Ophthalmology, Daping Hospital, Army Medical Center, Army Medical University, Chongqing, China.
Hong YangDepartment of Ophthalmology, Daping Hospital, Army Medical Center, Army Medical University, Chongqing, China.
Ling YuDepartment of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: This study identified the genetic causes of Axenfeld-Rieger syndrome (ARS) in a Chinese family and evaluated their clinical phenotype and clinical treatment. Methods: We recruited a Chinese family with ARS. The proband presented with bilateral ectopic pupils, periumbilical redundancy, craniofacial abnormalities, and dental abnormalities after birth and was diagnosed with ARS. The symptoms were the same for her younger brother. Blood samples were collected from four family members: the proband, her brother, and her parents. Whole-genome sequencing (WGS) was performed to identify probable genetic variants in the proband. To confirm the identified variants, samples from the other family members were subjected to quantitative polymerase chain reaction (qPCR) and Sanger sequencing. Results: Based on the results of WGS, we suspected a deletion region and an inversion region around the Conclusions: Using WGS, qPCR, and Sanger, we found a complex genomic rearrangement with the deletion of

Indexed as

Anterior Eye SegmentEye AbnormalitiesGene RearrangementHomeodomain ProteinsSequence DeletionTranscription FactorsAdultChinaChromosomes, Human, Pair 4East Asian PeopleEye Diseases, HereditaryFemaleHomeobox Protein PITX2HumansMalePedigreeHomeobox Protein PITX2Homeodomain ProteinsTranscription Factors

Identifiers

PMID39959165
PMCPMC11829790

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Registered trials

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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.