Evidence map›Paper›PMID 36035167›Full record

ArticleFrontiers in genetics2022

Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.

Junjie Hu, Ying Zhang, Yanmei Yang, Liya Wang, Yixi Sun, Minyue Dong

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2022. 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

6 authors.

Junjie HuWomen's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Ying ZhangWomen's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Yanmei YangWomen's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Liya WangWomen's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Yixi SunWomen's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Minyue DongWomen's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of this work was to explore the genetic cause of the proband (Ⅲ2) presenting with polyhydramnios and gastroschisis. Copy number variation sequencing (CNV-seq), methylation-specific multiplex PCR (MS-PCR), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were used to characterize the genetic etiology. CNV-seq revealed a deletion of 732.26 kb at 14q32.2q32.31 in the proband (Ⅲ2) and its mother (Ⅱ2). MS-PCR showed the maternal allele was missing in the proband, while paternal allele was missing in its mother. MS-MLPA showed deletion of the

Indexed as

differentially methylated regionimprinting disorderKagami–Ogata syndromeprenatal diagnosisTemple syndrome

Identifiers

PMID36035167
PMCPMC9410364

What OpenQuestion holds

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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.