Evidence map›Paper›PMID 36553464›Full record

ArticleGenes2022

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.

Paola Castronovo, Sebastiano Aleo, Agostino Seresini, Federico Grilli, Emilio Brunati, Paola Marchisio, Sophie Guez, Donatella Milani

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

Article in Genes, 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. 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.

Paola CastronovoFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Laboratory, 20122 Milan, Italy.
Sebastiano AleoFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.ORCID 0000-0002-0425-3043
Agostino SeresiniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Laboratory, 20122 Milan, Italy.
Federico GrilliFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Emilio BrunatiCentro di Neuroriabilitazione Pediatrica, Casa di Cura Privata del Policlinico, 20144 Milan, Italy.
Paola MarchisioFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Sophie GuezFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Donatella MilaniFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.ORCID 0000-0002-3087-8514

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kyphoscoliotic Ehlers-Danlos syndrome and 17p13.3 microduplication share multiple clinical features such as muscle hypotonia, cleft palate, and growth impairment. This paper describes a patient who was first diagnosed with the duplication and a decade later also with

Indexed as

Ehlers-Danlos SyndromeHumansMuscle HypotoniaMutationPeptidylprolyl IsomeraseFKBP14 protein, humanPeptidylprolyl Isomerasecase reportEhlers–Danlos syndromeFKBP14scoliosis

Identifiers

PMID36553464
PMCPMC9778043

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.