Broadening the

Giulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, Daniele Castiglia, Giovanni Di Zenzo, Biagio Didona

Abstract readCase Reports

PubMed Full text at PMC Publisher

In one paragraph

Article in Children (Basel, Switzerland), 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

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.

Chung-Jansen Syndrome in a Young Woman with a PHIP Variant: Severe Obesity, Intellectual Disability, and Endocrine Abnormalities.Journal of clinical medicine · 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

6 authors.

Giulia PascoliniGenetic Counselling Unit, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy.

Giovanni Luca ScaglioneBioinformatic Unit, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, 00167 Rome, Italy.ORCID 0000-0001-5622-7843

Balasubramanian ChandramouliSuper Computing Applications and Innovation, Department High Performance Computing (HPC), CINECA, 40033 Bologna, Italy.

Daniele CastigliaMolecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, 00167 Rome, Italy.ORCID 0000-0003-3501-6742

Giovanni Di ZenzoMolecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, 00167 Rome, Italy.ORCID 0000-0001-6106-599X

Biagio DidonaRare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, 00167 Rome, Italy.

Funding

Italian Ministry of Health (Ricerca Corrente 2023) Italian Ministry of Health (Ricerca Corrente 2023)

6 · The paper itself

Abstract

backgroundMonoallelic damaging variants in CASE DESCRIPTION: We evaluated a child presenting with DD/ID and a craniofacial phenotype reminiscent of a Pitt-Hopkins syndrome (PTHS)-like condition. We performed a clinical exome analysis on his biological sample, as well as an in silico prediction of the obtained data. At the same time, we interrogated the DeepGestalt technology powered by Face2Gene (F2G), using a frontal image of the proband, and clinically reviewed the earlier CHUJANS patients. In this child, we found a novel

conclusionsThe unusual clinical presentation of this novel patient resembles a PTHS-like condition. However, a novel variant in

Indexed as

abnormal skin appendagesChung–Jansen syndrome (CHUJANS)neurodevelopmentPHIPPitt–Hopkins syndrome (PTHS)-like phenotypeteeth anomalies

Identifiers

PMID39594970

DOI10.3390/children11111395

PMCPMC11593145

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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.