Evidence map›Paper›PMID 41819808›Full record

ArticleJournal of medical genetics2026

Diagnosis complexity of dentinogenesis imperfecta involving

Gaétan Caravello, Alexandra Jiménez-Armijo, Marzena Kawczynski, Tristan Rey, O-Rares Consortium, Manuela Antin, Alison Roth, Jean-Baptiste Lamouche, Aurélie Gouronc, Abdelmalek Alioua and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2026. 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.

Gaétan CaravelloPôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de Référence des Maladies Rares Orales et Dentaires, O-Rares, Filière Santé Maladies Rares TETECOU, European Reference Network ERN CRANIO, Les Hopitaux Universitaires de Strasbourg, Strasbourg, France.
Alexandra Jiménez-ArmijoPôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de Référence des Maladies Rares Orales et Dentaires, O-Rares, Filière Santé Maladies Rares TETECOU, European Reference Network ERN CRANIO, Les Hopitaux Universitaires de Strasbourg, Strasbourg, France.ORCID http://orcid.org/0000-0002-3967-3996
Marzena KawczynskiPôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de Référence des Maladies Rares Orales et Dentaires, O-Rares, Filière Santé Maladies Rares TETECOU, European Reference Network ERN CRANIO, Les Hopitaux Universitaires de Strasbourg, Strasbourg, France.
Tristan ReyPôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de Référence des Maladies Rares Orales et Dentaires, O-Rares, Filière Santé Maladies Rares TETECOU, European Reference Network ERN CRANIO, Les Hopitaux Universitaires de Strasbourg, Strasbourg, France.
O-Rares Consortium
Manuela AntinLaboratoire de diagnostic génétique, Nouvel Hôpital Civil, Les Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Alison RothLaboratoire de diagnostic génétique, Nouvel Hôpital Civil, Les Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Jean-Baptiste LamoucheLaboratoire de diagnostic génétique, Nouvel Hôpital Civil, Les Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Aurélie GouroncLaboratoire de diagnostic génétique, Nouvel Hôpital Civil, Les Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Abdelmalek AliouaCNRS, Université de Strasbourg, Institut de Biologie Moléculaire des Plantes, Strasbourg, France.
Caroline Schluth-BolardLaboratoire de diagnostic génétique, Nouvel Hôpital Civil, Les Hôpitaux Universitaires de Strasbourg, Strasbourg, France.ORCID http://orcid.org/0000-0002-2279-4273
Agnès Bloch-ZupanPôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de Référence des Maladies Rares Orales et Dentaires, O-Rares, Filière Santé Maladies Rares TETECOU, European Reference Network ERN CRANIO, Les Hopitaux Universitaires de Strasbourg, Strasbourg, France agnes.bloch-zupan@unistra.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariants in the dentin sialophosphoprotein ( MATERIALS AND

methodsWe studied 112 individuals (42 index cases and 70 relatives) with clinical signs of DI or DD. DNA extracted from saliva was analysed using the GenoDENT next-generation sequencing panel. For inconclusive cases, long-range PCR and Oxford Nanopore Technology (ONT) long-read sequencing were used to overcome limitations in analysing the repetitive

resultsPathogenic or likely pathogenic

conclusionThis study demonstrates the value of long-read sequencing to resolve complex

Indexed as

Dentinogenesis ImperfectaExtracellular Matrix ProteinsGenetic VariationPhosphoproteinsSialoglycoproteinsChildDentin SialophosphoproteinExonsFemaleHigh-Throughput Nucleotide SequencingHumansMalePedigreeDentin SialophosphoproteinExtracellular Matrix ProteinsPhosphoproteinsSialoglycoproteinsDentistryGenetic Diseases, InbornGenetics, MedicalMolecular Diagnostic TechniquesNanopore Sequencing

Identifiers

PMID41819808
PMCPMC13217078

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.