Evidence map›Paper›PMID 38275611›Full record

ReviewGenes2024

First Case of a Dominant De Novo

Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo

Open access · goldAbstract readReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes, 2024. 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, top 99% of its field
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, 0 citations in OpenAlex.

  1. Skeletal dysplasia and growth disorder withClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026
    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

8 authors at 2 institutions in 1 country.

Elia Marco Paolo MinaleU.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.ORCID 0009-0007-5933-3183
Alessandro De FalcoU.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.ORCID 0000-0003-1569-1556
Emanuele AgoliniLaboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165 Rome, Italy.ORCID 0000-0001-6543-6225
Antonio NovelliLaboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9037-4297
Roberta RussoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.ORCID 0000-0002-3624-7721
Immacolata AndolfoDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
Achille IolasconU.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.ORCID 0000-0002-9558-0356
Carmelo PiscopoMedical and Laboratory Genetic Unit, Antonio Cardarelli Hospital, 80131 Naples, Italy.
Federico II University Hospital · ITBambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the

Indexed as

Intellectual DisabilityVesicular Transport ProteinsChildEndoplasmic ReticulumGolgi ApparatusHumansMaleMutation, MissenseSEC23A protein, humanVesicular Transport ProteinsCranio-lenticulo-sutural dysplasiagenotype–phenotype correlationliterature overviewneurological manifestationsSEC23A

Identifiers

PMID38275611
PMCPMC10815465
OpenAlexW4391088815

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.