Evidence map›Paper›PMID 38585553›Full record

ArticleMolecular syndromology2024

Report of a Novel Homozygous Intragenic

Elisa Rahikkala, Taneli Väisänen, Liisa Ojala, Pia Pohjola, Minna Toivonen, Riitta Parkkola, Maria K Haanpää

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2024. 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

7 authors.

Elisa RahikkalaInstitute of Biomedicine, University of Turku, Turku, Finland.
Taneli VäisänenDepartment of Clinical Genetics, Turku University Hospital, Turku, Finland.
Liisa OjalaDepartment of Ophthalmology, Turku University Hospital, Turku, Finland.
Pia PohjolaDepartment of Genomics, Turku University Hospital, Turku, Finland.
Minna ToivonenDepartment of Genomics, Turku University Hospital, Turku, Finland.
Riitta ParkkolaDepartment of Radiology, Turku University Hospital, Turku, Finland.
Maria K HaanpääInstitute of Biomedicine, University of Turku, Turku, Finland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development aka developmental split-brain syndrome is an ultra-rare congenital disorder caused by pathogenic biallelic variants in the deleted in colorectal cancer ( Case Presentation: We report the clinical and genetic characterization of a Syrian patient with a HGPPS2 phenotype and review the previously published cases of HGPPS2. The genetic screening was performed using exome sequencing on Illumina platform. Genetic analysis revealed a novel Conclusion: The analysis of duplications and deletions in the

Indexed as

Agenesis of corpus callosumDCCDuplicationHGPPS2Horizontal gaze palsyIntellectual disabilityProgressive scoliosis

Identifiers

PMID38585553
PMCPMC10996338

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.