Evidence map›Paper›PMID 32042422›Full record

ArticleBiomedical reports2020

Diagnosis of a case of homozygous constitutional MMR-deficiency by the use of a gene-panel in a non-consanguineous family: A case report.

Ming Xu, Hongsheng He, Zengqiang Yang, Peng Luo, Qing Wang, Feng Gao

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomedical reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 45% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

6 authors at 2 institutions in 2 countries.

Ming XuDepartment of Colorectal and Anal Surgery, The 940th Hospital of Joint Logistics Support Force of The Chinese People's Liberation Army, Lanzhou, Gansu 730050, P.R. China.
Hongsheng HeShanghai Topgen Bio-Pharm Co., Ltd., Shanghai 201321, P.R. China.
Zengqiang YangDepartment of Colorectal and Anal Surgery, The 940th Hospital of Joint Logistics Support Force of The Chinese People's Liberation Army, Lanzhou, Gansu 730050, P.R. China.
Peng LuoShanghai Topgen Bio-Pharm Co., Ltd., Shanghai 201321, P.R. China.
Qing WangJoint Laboratory of Constitutional Genetics on Frequent Cancers HCL-CLB, Cancer Genomics Platform, Centre Léon Bérard, Lyon 69008, France.
Feng GaoDepartment of Colorectal and Anal Surgery, The 940th Hospital of Joint Logistics Support Force of The Chinese People's Liberation Army, Lanzhou, Gansu 730050, P.R. China.
Chinese People's Liberation Army · CNHospices Civils de Lyon · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Constitutional MMR-deficiency syndrome (CMMRD) is a rare but severe hereditary syndrome of pediatric cancer caused by bi-allelic pathogenic variants in one of the mismatch DNA repair genes (MMR):

Indexed as

bi-allelic inactivationconstitutional MMR-deficiency syndromehomozygous MMR pathogenic variantLynch syndromepediatric cancer syndrome

Identifiers

PMID32042422
PMCPMC7006093
OpenAlexW2994790043

What OpenQuestion holds

Textmetadata
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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.