Malformation Pattern and Molecular Findings in the

Abstract readReview

In one paragraph

Review in Medical sciences (Basel, Switzerland), 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.

Environmental Pollutant PCB 153 Is Associated with Candidate Alternative Splicing Alterations in Intellectual Disability-Associated Genes: An Exploratory RNA-Seq Splicing Analysis in a Neuronal Model.Genes · 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

2 authors.

Federica GaudiosoRadiodiagnostics Division, Bicocca University, 20126 Milan, Italy.ORCID 0000-0001-8071-3796

Giulia PascoliniGenetic Counseling Unit, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, 00167 Rome, Italy.ORCID 0000-0002-2440-7441

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesThe Fibroblast Growth Factor Receptor 1 (

methodsThe malformation phenotype of HRTFDS has been reviewed in 26 previously reported patients in terms of single congenital defects, mutational spectrum, impacted protein domains and inheritance. Molecular basis, clinical management, main differential diagnoses and genetic counseling were also illustrated.

resultsSHFM was identified in every patient. The other main associated features included craniofacial defects, skeletal malformation identified at radiography, genitourinary anomalies, HPE and cardiovascular disorders.

conclusionsThis study extensively recapitulates the malformation phenotype associated with HRTFDS and the underlying molecular perturbations. A multidisciplinary clinical approach is fundamental, in which genetic counseling can have an important role. However, our results are partial and refer to a restricted number of patients, pointing out the necessity of other descriptions and similar research. Additional studies will expand clinical and molecular knowledge as well as further clarify the biological mechanisms.

Indexed as

Abnormalities, MultipleCleft PalateHoloprosencephalyLimb Deformities, CongenitalReceptor, Fibroblast Growth Factor, Type 1HumansMutationPhenotypeFGFR1 protein, humanReceptor, Fibroblast Growth Factor, Type 1FGFR1FGFR1-related Hartsfield syndromesplit-hand/foot malformation (SHFM)TP63-associated ectodermal dysplasia

Identifiers

PMID41562894

DOI10.3390/medsci14010004

PMCPMC12821716

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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.