Evidence map›Paper›PMID 38027129›Full record

ArticleFrontiers in endocrinology2023

Case Report: A novel

Qiuyan Mai, Ruining Han, Yinlong Chen, Ke Shen, Shimin Wang, Qingliang Zheng

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2023. 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
0.3field-weighted citation impact, top 28% of its field
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, 1 citations in OpenAlex.

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

6 authors at 1 institution in 1 country.

Qiuyan Mai *Prenatal Diagnosis Center of the Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Ruining Han *Obstetrical Department of the Eighth Affiliated Hospital, Sun Yat-Sen University, Shenzhen, China.
Yinlong Chen *Prenatal Diagnosis Center of the Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Ke ShenPrenatal Diagnosis Center of the Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Shimin WangPrenatal Diagnosis Center of the Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Qingliang ZhengPrenatal Diagnosis Center of the Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Sun Yat-sen University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Osteogenesis imperfecta (OI) is a rare genetic disorder. Clinical severity is heterogeneous. The purpose of this study was to investigate the genetic characteristics of a fetus with OI by whole exome sequencing (WES) and identify the cause of the disease. Methods: In this study, a fetus with osteogenic dysplasia was referred to our hospital. DNA was extracted from the aborted fetal tissue and peripheral blood of the parents. To identify the pathogenic genes, we conducted the trio-WES using DNA. A Results: Both WES and Sanger sequencing identified a novel Conclusion: This study revealed that the c.1309G>A (p. Gly437Ser) variant in the

Indexed as

Osteogenesis ImperfectaCollagen Type ICollagen Type I, alpha 1 ChainDNAHumansCollagen Type ICollagen Type I, alpha 1 ChainDNACOL1A1de novoosteogenesis imperfectatype I collagenwhole exome sequencing

Identifiers

PMID38027129
PMCPMC10653333
OpenAlexW4388303366

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.