Evidence map›Paper›PMID 40761211›Full record

ArticleAME case reports2025

RFX6 heterozygous frame-shift variation causes maturity-onset diabetes mellitus of the young (MODY) with refractory hyperlipidemia: a case report.

Man Li, Long Wang, Yuexian Xing, Xiaolin Huang, Fang Jia, Wendong Xu, Kaiming Luo

Abstract readCase Reports
In one paragraph

Article in AME case reports, 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. 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

7 authors.

Man LiDepartment of Endocrinology, the Third Affiliated Hospital of Soochow University, Changzhou, China.
Long WangDepartment of Endocrinology, the Third Affiliated Hospital of Soochow University, Changzhou, China.
Yuexian XingDepartment of Endocrinology, the Third Affiliated Hospital of Soochow University, Changzhou, China.
Xiaolin HuangDepartment of Endocrinology, the Third Affiliated Hospital of Soochow University, Changzhou, China.
Fang JiaDepartment of Cardiovascular Medicine, the Third Affiliated Hospital of Soochow University, Changzhou, China.
Wendong XuDepartment of Endocrinology, the Third Affiliated Hospital of Soochow University, Changzhou, China.
Kaiming LuoDepartment of Endocrinology, the Third Affiliated Hospital of Soochow University, Changzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Maturity-onset diabetes mellitus of the young (MODY) is a form of autosomal dominant inherited diabetes, featuring diverse clinical characteristics due to distinct pathogenic gene mutation sites. Reports on MODY caused by Case Description: A 13-year-old adolescent female presented with persistent dry mouth, polydipsia, and polyuria. The physical examination accidentally found high blood glucose. She had refractory hyperlipidemia in the past and was treated with a variety of lipid-lowering programs, but her lipids were still poorly controlled. Due to the patient's early age of onset, the special type of diabetes cannot be excluded, and she is recommended to be further examined in our hospital. Conclusions: We sequenced the MODY-related genes of the patient and her mother.

Indexed as

case reporthyperlipidemiaMaturity-onset diabetes mellitus of the young (MODY)RFX6

Identifiers

PMID40761211
PMCPMC12319597

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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.