Evidence map›Paper›PMID 42016693›Full record

ArticleClinical case reports2026

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene.

Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 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

6 authors.

Adalgisa CordiscoDivision of Prenatal Diagnosis P. Palagi and San Giovanni di Dio Hospital Florence Italy.ORCID https://orcid.org/0000-0002-2206-8909
Stefania MagliuloMedical Genetics Laboratory, Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy.
Chiara Di MarcoDivision of Medical Genetics, Azienda USL Toscana Centro Santa Maria Nuova Hospital Firenze Italy.
Elisa FortunaObstetric and Prenatal Medicine Unit IRCCS Azienda Ospedaliero-Universitaria Sant'orsola-Malpighi Bologna Italy.
Alessandra TerraccianoMedical Genetics Laboratory, Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy.
Claudio MeloniDivision of Prenatal Diagnosis Azienda Ospedaliero Universitaria Meyer Florence Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A detailed description of prenatal ultrasound signs of congenital renal cystic dysplasia (CRCD) is reported. Molecular investigations identified the c.179G>T, p.(Gly60Val) "de novo" variant in a heterozygous state in the RAP1B gene. This is a missense variant not described in the literature. Predictive tools suggest a pathogenic role for this mutation and a likely association with the clinical phenotype.

Indexed as

prenatal diagnosisRAP1B generenal agenesisrenal cystic dysplasia

Identifiers

PMID42016693
PMCPMC13093714

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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.