Evidence map›Paper›PMID 41040836›Full record

ArticleClinical case reports2025

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome.

Rodrigo Cabrera, Marlon Yesid Barrera Montañez, Sebastian Ramiro Gil-Quiñones, Adriana Motta Beltrán, Natalia Santiago-Tovar, Nora Contreras-Bravo, Dora Janeth Fonseca-Mendoza, Carlos Martin Restrepo, Adrien Morel

Abstract read
In one paragraph

Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Rodrigo CabreraSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT) Universidad del Rosario Bogotá Colombia.
Marlon Yesid Barrera MontañezDepartamento de Dermatología Universidad El Bosque Bogotá Colombia.
Sebastian Ramiro Gil-QuiñonesDepartamento de Dermatología Universidad El Bosque Bogotá Colombia.
Adriana Motta BeltránDepartamento de Dermatología Universidad El Bosque Bogotá Colombia.
Natalia Santiago-TovarSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT) Universidad del Rosario Bogotá Colombia.
Nora Contreras-BravoSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT) Universidad del Rosario Bogotá Colombia.
Dora Janeth Fonseca-MendozaSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT) Universidad del Rosario Bogotá Colombia.
Carlos Martin RestrepoSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT) Universidad del Rosario Bogotá Colombia.
Adrien MorelSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT) Universidad del Rosario Bogotá Colombia.ORCID https://orcid.org/0000-0002-9654-6053

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Adams-Oliver syndrome (AOS) is a rare disease classically described with scalp vertex aplasia cutis and terminal transverse limb defects. This syndrome is frequently misdiagnosed by taking each feature of the disease separately. A novel

Indexed as

Adams–Oliver syndrome type 6alphafoldartificial intelligenceDLL4PremPSWES

Identifiers

PMID41040836
PMCPMC12485272

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.