Evidence map›Paper›PMID 39119446›Full record

ArticleMolecular syndromology2024

Homozygous Paternally Inherited

Sinem Yalcintepe, Tuba Maras, Ilke Kizilyar, Hazal Sezginer Guler, Drenushe Zhuri, Engin Atli, Yasemin Ozen, Hakan Gurkan

Abstract read
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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

8 authors.

Sinem YalcintepeDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Tuba MarasDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Ilke KizilyarDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Hazal Sezginer GulerDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Drenushe ZhuriDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Engin AtliDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Yasemin OzenDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.
Hakan GurkanDepartment of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Canavan disease is an autosomal recessive disorder that causes accumulation of N-acetyl ASPArtic acid in the brain due to ASPArtoacylase deficiency with homozygous or compound heterozygous pathogenic variants in the Case Presentation: A one-year-old female case was evaluated in our medical genetics clinic for hypotonia, nystagmus, and strabismus. Chromosome analysis and array-comparative genomic hybridization showed no pathology. Clinical exome sequencing by next-generation sequencing was performed and a homozygous likely pathogenic variant NM_000049.4( Conclusion: In this report, we aimed to present the first case of Canavan disease with maternal loss of heterozygosity in the

Indexed as

ASPACanavan diseaseLoss of heterozygosity

Identifiers

PMID39119446
PMCPMC11305664

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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.