Evidence map›Paper›PMID 41767072›Full record

ArticleClinical case reports2026

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith-Magenis Syndrome due to a Previously Unreported

Edgar Andrés Chavarría-Martínez, Julen Arellano-Sandúa, Ruth Arias-Hidalgo, Ana Patiño-García, Adrián Cano-Prous

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In one paragraph

Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Edgar Andrés Chavarría-MartínezDepartment of Psychiatry and Clinical Psychology Clínica Universidad de Navarra Pamplona Navarra Spain.ORCID https://orcid.org/0009-0002-0269-6497
Julen Arellano-SandúaDepartment of Psychiatry and Clinical Psychology Clínica Universidad de Navarra Pamplona Navarra Spain.
Ruth Arias-HidalgoDepartment of Psychiatry and Clinical Psychology Clínica Universidad de Navarra Pamplona Navarra Spain.
Ana Patiño-GarcíaDepartment of Clinical Genetics Clínica Universidad de Navarra Pamplona Navarra Spain.
Adrián Cano-ProusDepartment of Psychiatry and Clinical Psychology Clínica Universidad de Navarra Pamplona Navarra Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Smith-Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss-of-function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be recognized by clinicians.

Indexed as

idiopathic intracranial hypertensionneuropsychological profileRAI1 geneSmith‐Magenis syndrome

Identifiers

PMID41767072
PMCPMC12945710

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Registered trials

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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.