The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

Kiabeth Robles-Espinoza, Eduardo Esparza-García, Juan Ramón González García, María Teresa Magaña-Torres

Abstract readCase ReportsReview

In one paragraph

Review in International journal of molecular sciences, 2025. 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

4 authors.

Kiabeth Robles-EspinozaDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.ORCID 0000-0002-1036-3249

Eduardo Esparza-GarcíaUnidad Médica de Alta Especialidad, Hospital de Pediatría del Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Belisario Domínguez 735, La Perla, Guadalajara 44360, Jalisco, Mexico.ORCID 0000-0001-6451-0366

Juan Ramón González GarcíaDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.

María Teresa Magaña-TorresDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.

Funding

Mexican Social Security Institute R2022-785-001

6 · The paper itself

Abstract

Metatropic dysplasia is an autosomal dominant skeletal disorder characterized by progressive kyphoscoliosis, severe platyspondyly, pronounced metaphyseal enlargement, and shortening of the long bones. This condition is caused by pathogenic variants in the

Indexed as

DwarfismOsteochondrodysplasiasTRPV Cation ChannelsChildChild, PreschoolFemaleHumansInfantMaleMutationPhenotypeTRPV4 protein, humanTRPV Cation Channelsmetatropic dysplasiaMexican patientsp.Asn796delp.Pro799Leuspectrum of TRPV4-related dysplasiasTRPV4 gene

Identifiers

PMID41097048

DOI10.3390/ijms26199783

PMCPMC12524330

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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.