Evidence map›Paper›PMID 39498435›Full record

ArticleClinical case reports2024

Novel postzygotic

Robin A Pilz, Dariush Skowronek, Tamara Ehresmann, Ute Felbor, Matthias Rath

Abstract read
In one paragraph

Article in Clinical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Novel postzygoticClinical case reports · 2024
    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

5 authors.

Robin A PilzDepartment of Human Genetics University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald Germany.
Dariush SkowronekDepartment of Human Genetics University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald Germany.
Tamara EhresmannLimbach Genetics GmbH MVZ Humangenetik Frankfurt Germany.
Ute FelborDepartment of Human Genetics University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald Germany.
Matthias RathDepartment of Human Genetics University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald Germany.ORCID https://orcid.org/0000-0002-7834-4650

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Key Clinical Message: Not only germline but also postzygotic mutations in the Abstract: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, with or without Parkes Weber syndrome, is a rare autosomal dominant disease caused by pathogenic

Indexed as

capillary malformationde novo variantmosaicismsParkes Weber syndromeRASA1segmental overgrowth

Identifiers

PMID39498435
PMCPMC11532015

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.