Evidence map›Paper›PMID 34200686›Full record

ArticleGenes2021

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.

Ilenia Maini, Stefano G Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.4field-weighted citation impact, top 15% 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

12 citing papers in PubMed, 17 citations in OpenAlex.

  1. Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.Journal of neuroradiology = Journal de neuroradiologie · 2025
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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

9 authors at 5 institutions in 2 countries.

Ilenia MainiChild Neuropsychiatry Unit, Azienda USL di Parma, 43121 Parma, Italy.
Stefano G CaraffiMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Francesca PelusoMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Lara ValeriMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Davide NicoliMolecular Biology Laboratory, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Steven LaurieClinical Genomics, Centre Nacional d'Anàlisi Genòmica, Centre de Regulació Genòmica, 08016 Barcelona, Spain.
Chiara BaldoLaboratory of Human Genetics, Galliera Hospital, 16128 Genoa, Italy.ORCID 0000-0001-7508-3953
Orsetta ZuffardiUnit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Livia GaravelliMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Azienda Sanitaria Unità Locale di Reggio Emilia · ITCentro Nacional de Análisis Genómico · ESEnte Ospedaliero Ospedali Galliera · ITUniversity of Modena and Reggio Emilia · ITUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the

Indexed as

PhenotypeAdolescentCraniofacial AbnormalitiesDevelopmental DisabilitiesFemaleGenetic Diseases, X-LinkedGenotypeHumansIntellectual DisabilityMutation, MissenseN-Terminal Acetyltransferase AN-Terminal Acetyltransferase ESyndromeNAA10 protein, humanN-Terminal Acetyltransferase AN-Terminal Acetyltransferase Egenotype–phenotype correlationNAA10-related syndromesyndromic and non-syndromic intellectual disabilityX-linked disorder

Identifiers

PMID34200686
PMCPMC8230408
OpenAlexW3170750324

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.