Evidence map›Paper›PMID 40004207›Full record

ArticleInternational journal of molecular sciences2025

Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.

Anastasiia Milovanova, Petr Ananin, Tatiana Vashurina, Olga Zrobok, Svetlana Dmitrienko, Alla Ryaposova, Elena Tsygina, Alexander Pushkov, Ilya Zhanin, Daria Chudakova and 6 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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

16 authors.

Anastasiia MilovanovaFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0003-1615-2044
Petr AnaninFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0003-3131-331X
Tatiana VashurinaFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Olga ZrobokFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Svetlana DmitrienkoFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Alla RyaposovaFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Elena TsyginaFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Alexander PushkovFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Ilya ZhaninFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0003-1423-0379
Daria ChudakovaFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0002-9354-6824
Aliy AsanovDepartment of Medical Genetics, N.V. Sklifosovsky Institute of Clinical Medicine, I.M. Sechenov First Moscow State Medical University, 115552 Moscow, Russia.
Olga ShchaginaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-4905-1303
Aleksander PolyakovResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Andrey FisenkoFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Kirill SavostyanovFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.
Alexey TsyginFederal State Autonomous Institution "National Medical Research Center of Children's Health" of the Ministry of Health of the Russian Federation, 119991 Moscow, Russia.ORCID 0000-0001-6301-9313

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Schimke immuno-osseous dysplasia (SIOD) is a hereditary autosomal-recessive multi-system disorder with early mortality. It has variable clinical presentations, mainly characterised by disproportional short stature, steroid-resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and T-cell immunodeficiency. In the majority of cases, SIOD is caused by pathogenic sequence variants (PSVs) in the

Indexed as

ArteriosclerosisDNA HelicasesGenetic Diseases, InbornNephrotic SyndromeOsteochondrodysplasiasPrimary Immunodeficiency DiseasesPulmonary EmbolismAdolescentChildChild, PreschoolFemaleHigh-Throughput Nucleotide SequencingHumansInfantMaleMutationDNA HelicasesSMARCAL1 protein, humangenetics of rare diseasehereditary nephrotic syndromeSchimke immuno-osseous dysplasia (SIOD)SMARCAL1steroid-resistant nephrotic syndrome (SRNS)ultra-rare hereditary disease

Identifiers

PMID40004207
PMCPMC11855709

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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.