Evidence map›Paper›PMID 31645978›Full record

ArticleHuman genome variation2019

A severe form of Ellis-van Creveld syndrome caused by novel mutations in

Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Yoshinori Tsurusaki, Yukiko Kuroda, Hiroshi Ishikawa, Makiko Ohyama, Noriko Aida, Gen Nishimura, Kenji Kurosawa

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

Article in Human genome variation, 2019. 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
1.3field-weighted citation impact, top 18% 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, 8 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

10 authors at 2 institutions in 1 country.

Ikuko Ohashi1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Yumi Enomoto2Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Takuya Naruto2Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Yoshinori Tsurusaki2Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Yukiko Kuroda1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Hiroshi Ishikawa3Department of Obstetrics and Gynecology, Kanagawa Children's Medical Center, Yokohama, Japan.
Makiko Ohyama4Department of Neonatology, Kanagawa Children's Medical Center, Yokohama, Japan.
Noriko Aida5Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
Gen Nishimura6Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan.
Kenji Kurosawa1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.ORCID 0000-0002-6817-7748
Kanagawa Children's Medical Center · JPSaitama Medical University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generally survive neonatal difficulties. We report here on affected Japanese sibs with a lethal phenotype of EvC caused by novel compound heterozygous mutations of

Indexed as

Genetic counsellingGenetics research

Identifiers

PMID31645978
PMCPMC6804659
OpenAlexW2969972016

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.