Evidence map›Paper›PMID 40374200›Full record

ArticleBMJ case reports2025

H syndrome presenting with bilateral cheek enlargement and an

Krisha King Lim, Jerson Jerick Ngo Taguibao, Lorenz Alianne Kirby Cheong Plando, Carmela Augusta Fugoso Dayrit-Castro

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 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.

  1. 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

4 authors.

Krisha King LimDepartment of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines kklim@alum.up.edu.ph.ORCID http://orcid.org/0009-0007-8096-6110
Jerson Jerick Ngo TaguibaoDepartment of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines.ORCID http://orcid.org/0009-0006-8690-7560
Lorenz Alianne Kirby Cheong PlandoDepartment of Otolaryngology, Head and Neck Surgery, University of the Philippines-Philippine General Hospital, Manila, Philippines.
Carmela Augusta Fugoso Dayrit-CastroDepartment of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An adolescent girl presents with bilateral cheek enlargement, hyperpigmentation and hypertrichosis of the lower extremities with otological, cardiac, endocrine, and hepatosplenic involvement. Clinical findings supplemented by histopathological and wide exome sequencing results led to the diagnosis of H syndrome. The genetic testing showed a homozygous frameshift mutation in the

Indexed as

CheekHearing Loss, SensorineuralHyperpigmentationHypertrichosisNucleoside Transport ProteinsAdolescentContractureFemaleFrameshift MutationHistiocytosisHumansNucleoside Transport ProteinsSLC29A3 protein, humanDermatologyGeneticsPaediatrics

Identifiers

PMID40374200
PMCPMC12083064

What OpenQuestion holds

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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.