Evidence map›Paper›PMID 32025536›Full record

ArticleBone reports2020

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).

Liza Das, Vandana Dhiman, Wim Van Hul, Anil Bhansali, Yashpal Gogate, Ellen Steenackers, Geert Mortier, Sanjay Kumar Bhadada

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

Article in Bone 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
0.4field-weighted citation impact, top 34% 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, 5 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

8 authors at 2 institutions in 2 countries.

Liza DasDepartment of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.
Vandana DhimanDepartment of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.
Wim Van HulDepartment of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Anil BhansaliDepartment of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.
Yashpal GogateDepartment of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.
Ellen SteenackersDepartment of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Geert MortierDepartment of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Sanjay Kumar BhadadaDepartment of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India.
Post Graduate Institute of Medical Education and Research · INUniversity of Antwerp · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionSpondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms. METHODOLOGY AND

resultsTwo relatives (cousins) in a family were found to have disproportionate short stature with clinical and radiological features suggestive of SEMD. Metabolic bone profile was normal including parathyroid hormone and 25(OH)vitamin D3. Exome sequencing revealed a missense mutation (p. T120M) in the von-Willebrand factor A-domain of the Matrilin 3 (

conclusionWe identified a homozygous missense mutation in

Indexed as

Matrilin-3 (MATN3)Spondylo-epi-metaphyseal dysplasia (SEMD)

Identifiers

PMID32025536
PMCPMC6997811
OpenAlexW2999692895

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.