Evidence map›Paper›PMID 41465324›Full record

ArticleInternational journal of molecular sciences2025

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo

Olesya Pshenichnikova, Valentina Salomashkina, Olga Yastrubinetskaya, Vadim Surin, Olesya Mishina, Galina Alimova, Tatiana Obukhova, Nadezhda Zozulya

Abstract readCase Reports
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. 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

8 authors.

Olesya PshenichnikovaLaboratory of Genetic Engineering, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0001-5752-8146
Valentina SalomashkinaLaboratory of Genetic Engineering, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0002-5669-3948
Olga YastrubinetskayaClinical and Diagnostic Department of Hematology and Hemostasis Disorders, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0001-8986-7572
Vadim SurinLaboratory of Genetic Engineering, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0002-1890-4492
Olesya MishinaLaboratory of Molecular Genetic Diagnostics, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0002-4845-4701
Galina AlimovaLaboratory of Karyology, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0002-5431-2240
Tatiana ObukhovaLaboratory of Karyology, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0003-1613-652X
Nadezhda ZozulyaClinical and Diagnostic Department of Hematology and Hemostasis Disorders, National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.ORCID 0000-0001-7074-0926

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hemophilia A (HA) is an X-linked recessive bleeding disorder that predominantly affects males but rarely manifests clinically in females. We report an unusual case of a woman with HA carrying a de novo heterozygous

Indexed as

Factor VIIIHemophilia AMonosomyMosaicismAdultChromosomes, Human, XFemaleHumansKaryotypingPhenotypeX Chromosome InactivationF8 protein, humanFactor VIIIF8 genehemophilia Amonosomy XmosaicismX chromosome inactivation

Identifiers

PMID41465324
PMCPMC12733031

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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.