Evidence map›Paper›PMID 38736573›Full record

ArticleClinical case reports2024

A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report.

Rong Jiang, Xueting Qiu, Xingfa Han, Zhimin Ma

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 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

4 authors.

Rong JiangEndocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.ORCID https://orcid.org/0000-0001-8558-4217
Xueting QiuEndocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.
Xingfa HanEndocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.
Zhimin MaEndocrinology Department The Affiliated Suzhou Hospital of Nanjing University Medical School Suzhou Jiangsu China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We reported a novel variant in Kallmann syndrome. It not only determines the clinical importance of whole exome sequencing for identification of genetic pathogenic variants, but also enriches the ANOS1 genetic spectrum of CHH patients in Chinese population.

Indexed as

ANOS1c.1187C>AKallmann syndromenovel mutationwhole exome sequencing

Identifiers

PMID38736573
PMCPMC11082082

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.