Evidence map›Paper›PMID 40463401›Full record

ArticleBiomedical reports2025

Novel familial

Christina Keramida, Chrisoula Efstathiadou, Elisavet Siomou, Elena Papageorgiou, Efterpi Pavlidou, Sotirios Sotiriou, Antonia Charitou, Makarios Eleftheriades, Georgios Nikas, Panagiotis Anastasopoulos and 2 more

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

Article in Biomedical reports, 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

12 authors.

Christina KeramidaClinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece.
Chrisoula EfstathiadouClinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece.
Elisavet SiomouClinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece.
Elena PapageorgiouClinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece.
Efterpi PavlidouDepartment of Speech and Language Therapy, University of Ioannina, 45110 Ioannina, Greece.
Sotirios SotiriouDepartment of Embryology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.
Antonia CharitouNeonatal Department and Neonatal Intensive Care Unit, REA Maternity Hospital, 17564 Athens, Greece.
Makarios EleftheriadesSecond Department of Obstetrics and Gynaecology, Aretaieio University Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Georgios NikasNeonatal Department and Neonatal Intensive Care Unit, REA Maternity Hospital, 17564 Athens, Greece.
Panagiotis AnastasopoulosDepartment of Maternal-Fetal and Perinatal Medicine, IASO Maternity Hospital, 15123 Athens, Greece.
Emmanouil ManolakosClinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece.
Ioannis PapoulidisClinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ectodermal dysplasia (ED) syndromes are a heterogeneous group of disorders characterized by defects in two or more ectodermal structures. At least one of the structures must involve the hair, teeth, nails, or sweat glands. ED-12 is a rare subtype of ED that is linked to mutations in the keratinocyte differentiation factor 1 (

Indexed as

ectodermal dysplasiafamilial mutationkeratinocyte differentiation factor 1whole exome sequencing

Identifiers

PMID40463401
PMCPMC12131305

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.