Evidence map›Paper›PMID 41700350›Full record

ArticleJournal of pediatric endocrinology & metabolism : JPEM2026

A novel

Cristina Pellicer Viudes, María Mansó Borrás, Susana Enrique Madrid, Berta Diago García, Armando Carlos Maruenda Jiménez, Paula Guzmán Tena, María Leticia Vázquez Álvarez, Victoria Cañadas Olmo, Dolores Tío Guillamón, María Amparo Edo Tena and 2 more

Abstract readCase Reports
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In one paragraph

Article in Journal of pediatric endocrinology & metabolism : JPEM, 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

12 authors.

Cristina Pellicer ViudesDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.ORCID https://orcid.org/0009-0002-3362-9596
María Mansó BorrásDepartment of Pediatrics (Endocrinology), Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Susana Enrique MadridDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
Berta Diago GarcíaDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
Armando Carlos Maruenda JiménezDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
Paula Guzmán TenaDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
María Leticia Vázquez ÁlvarezDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
Victoria Cañadas OlmoDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
Dolores Tío GuillamónDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
María Amparo Edo TenaDepartment of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.
Edurne Novella-MaestreDepartment of Genetics, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Purificación Marín ReinaDepartment of Pediatrics (Dysmorphology), Hospital Universitario y Politécnico La Fe, Valencia, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesMosaic variegated aneuploidy syndrome 2 (MVA2) is an uncommon autosomal recessive genetic condition caused by mutations in the CASE PRESENTATION: We report a 6-year-old girl of consanguineous Moroccan parents, presenting with severe short stature, clinodactyly, and dysmorphic facial features including prominent forehead, triangular face, micro-retrognathia, and low set ears. Neurodevelopment was initially normal, but mild intellectual disability was then noted. Genetic testing including karyotype, array-CGH, and Silver-Russell syndrome were normal. Finally, whole exome sequencing revealed a homozygous c.834_844dupCAATGTTCAGC variant in

conclusionsThis report describes a novel homozygous variant of

Indexed as

Chromosome DisordersMicrotubule-Associated ProteinsMutationNuclear ProteinsChildConsanguinityFemaleHumansMosaicismPrognosisCEP57 protein, humanMicrotubule-Associated ProteinsNuclear ProteinsCEP57 genegrowth retardationmosaic variegated aneuploidyshort stature

Identifiers

PMID41700350

What OpenQuestion holds

Textmetadata
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.