Evidence map›Paper›PMID 40860344›Full record

ArticleFrontiers in genetics2025

Identification of a novel, pathogenic

Anna Μaria Anastasiou, Constantia Aristidou, Athina Theodosiou, Ludmila Kousoulidou, Ioannis Papaevripidou, Angelos Alexandrou, Paola Evangelidou, Carolina Sismani, George A Tanteles, Despina Sanoudou and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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

11 authors.

Anna Μaria AnastasiouDepartment of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Constantia AristidouDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Athina TheodosiouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Ludmila KousoulidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Ioannis PapaevripidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Angelos AlexandrouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Paola EvangelidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Carolina SismaniDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
George A TantelesDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Despina SanoudouClinical Genomics and Pharmacogenomics Unit, 4th Pathology Clinic, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Aristides G EliopoulosDepartment of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Menke-Hennekam syndrome (MKHK) is a recently described rare autosomal dominant disorder caused by loss-of-function variants in exon 30 or 31 of

Indexed as

case reportCREBBPgeneticsMenke-Hennekam syndromerare diseaseRubinstein-Taybi syndromevariant

Identifiers

PMID40860344
PMCPMC12375898

What OpenQuestion holds

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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.