Evidence map›Paper›PMID 37047644›Full record

ArticleInternational journal of molecular sciences2023

Case Report: A Novel Homozygous Variant of the

Irina Zh Zhalsanova, Anna Evgenievna Postrigan, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Daria Ivanovna Zhigalina, Aleksei Andreevich Zarubin, Valeria Viktorovna Petrova, Larisa Ivanovna Minaycheva, Gulnara Narimanovna Seitova, Nikolay Alekseevich Skryabin and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 25% of its field
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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

11 authors at 1 institution in 1 country.

Irina Zh ZhalsanovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0000-0001-6848-7749
Anna Evgenievna PostriganResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Nail Raushanovich ValiakhmetovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Nikita Aleksandrovich KolesnikovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.ORCID 0000-0001-8855-577X
Daria Ivanovna ZhigalinaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Aleksei Andreevich ZarubinResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Valeria Viktorovna PetrovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Larisa Ivanovna MinaychevaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Gulnara Narimanovna SeitovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Nikolay Alekseevich SkryabinResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Vadim Anatolevich StepanovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia.
Tomsk National Research Medical Center · RU

Funding

Ministry of Science and Higher Education of the Russian Federation No. 075-15-2021-1061
6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is a group of connective tissue disorders with different types of inheritance. OI is characterized by bone fragility and deformities, frequent fractures, low bone-mineral density, and impaired bone micro-architectonics. We described here a case of a one-year-old Tuvan patient with multiple fractures. The disease manifestation occurred first at 12 weeks of age as a shoulder joint bruise, and during the year, the patient sustained 27 fractures. Genetic testing revealed a novel homozygous mutation, c.259_260insCGGCC (p.T87fs), in the

Indexed as

Fractures, BoneOsteogenesis ImperfectaBone and BonesCollagen Type IHomozygoteHumansMutationPigment Epithelium-Derived FactorCollagen Type IPigment Epithelium-Derived Factorconnective tissue disordersnext-generation sequencingosteogenesis imperfectaSERPINF1

Identifiers

PMID37047644
PMCPMC10095092
OpenAlexW4362559847

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.