Evidence map›Paper›PMID 41828725›Full record

ArticleInternational journal of molecular sciences2026

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Tatyana Vasilyeva, Nataliya Kashirskaya, Anna Mukhina, Anastasia Bobreshova, Yuliya Melyanovskaya, Olga Karpova, Dmitriy Kazakov, Andrey Marakhonov, Dmitry Pershin, Elena Kondratyeva and 7 more

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Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

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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

17 authors.

Tatyana VasilyevaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-6744-0567
Nataliya KashirskayaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0003-0503-6371
Anna MukhinaResearch Centre for Medical Genetics, Moscow 115522, Russia.
Anastasia BobreshovaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0009-0001-3476-053X
Yuliya MelyanovskayaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-8814-5532
Olga KarpovaChildren's Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan 420011, Russia.
Dmitriy KazakovVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow 125412, Russia.ORCID 0000-0003-3071-578X
Andrey MarakhonovResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-0972-5118
Dmitry PershinDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117198, Russia.ORCID 0000-0002-6148-7209
Elena KondratyevaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0001-6395-0407
Kristina MikhalchukResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-0394-7801
Ekaterina SelinaChildren's Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan 420011, Russia.
Farida SibgatullinaChildren's Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan 420011, Russia.
Almazia ShakirovaChildren's Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan 420011, Russia.
Zulfia VafinaRepublican Clinical Hospital, Kazan 420000, Russia.
Anna ShcherbinaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117198, Russia.
Rena ZinchenkoResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0003-3586-3458

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The article presents a clinical case involving a patient with presumptive coexistence of two hereditary disorders, confirmed by molecular genetic analyses. Clinical evaluation of the proband, a 9-year-old girl, revealed features characteristic of Kabuki syndrome, including a typical "Kabuki makeup" facial phenotype, short stature, intracranial hypertension, and diffuse muscular hypotonia. Additional clinical findings included chronic right-sided otitis media, conjunctivitis, recurrent pneumonia, bilateral conductive hearing loss, astigmatism, and primary adenitis. Clinical assessment and molecular genetic testing were performed. High-throughput sequencing identified a previously reported pathogenic heterozygous variant in the

Indexed as

Abnormalities, MultipleCystic FibrosisDNA-Binding ProteinsFaceHematologic DiseasesNeoplasm ProteinsVestibular DiseasesChildCystic Fibrosis Transmembrane Conductance RegulatorFemaleHumansMutationPedigreePhenotypeCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorDNA-Binding ProteinsKMT2D protein, humanNeoplasm ProteinsCFTRclinical significanceCRMS/CFSPIDcystic fibrosisD1152H (p.Asp1152His)Kabuki syndromeKMT2D

Identifiers

PMID41828725
PMCPMC12985789

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