Evidence map›Paper›PMID 40725227›Full record

ArticleInternational journal of molecular sciences2025

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Daria Gorodilova, Elena Dadali, Vladimir Kenis, Evgenii Melchenko, Daria Akimova, Maria Bulakh, Anna Orlova, Maria Orlova, Olga Shatokhina, Evgeniya Melnik and 4 more

Abstract read
In one paragraph

Article 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. 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

14 authors.

Daria GorodilovaResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.ORCID 0000-0002-5863-3543
Elena DadaliResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
Vladimir KenisH. Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery, Parkovaya 64-68, Pushkin, 196603 Saint-Petersburg, Russia.ORCID 0000-0002-7651-8485
Evgenii MelchenkoH. Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery, Parkovaya 64-68, Pushkin, 196603 Saint-Petersburg, Russia.
Daria AkimovaResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
Maria BulakhResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.ORCID 0000-0002-8674-7230
Anna OrlovaResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.ORCID 0000-0002-8831-1844
Maria OrlovaResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
Olga ShatokhinaResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.ORCID 0000-0003-0351-1271
Evgeniya MelnikResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
Marc Baud'huinNantes Université, Univ Angers, CHU Nantes, INSERM, CNRS, CRCI2NA, F-44000 Nantes, France.
Mikhail SkoblovResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.ORCID 0000-0002-7293-3438
Sergey KutsevResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
Tatiana MarkovaResearch Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.ORCID 0000-0002-2672-6294

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spondyloepimetaphyseal dysplasia type Isidor-Toutain (RPL13-SEMD) is an autosomal dominant skeletal dysplasia caused by heterozygous pathogenic variants in the

Indexed as

OsteochondrodysplasiasRibosomal ProteinsAdolescentAdultChildChild, PreschoolExonsFemaleHumansMaleMutationPedigreePhenotypeYoung AdultRibosomal Proteinsincomplete penetranceribosomopathyRPL13SEMDskeletal dysplasiaspondyloepimetaphyseal dysplasia

Identifiers

PMID40725227
PMCPMC12294852

What OpenQuestion holds

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LicenceCC BY
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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.