Evidence map›Paper›PMID 41853139›Full record

ArticleFrontiers in genetics2026

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.

Kondyarpu Abhishek, Nitish Kumar Mohanta, Joseph John, Swarupa Panda, Amit Kumar Satapathy, Roma Rattan, Puppala Venkat Ramchander

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2026. 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.

Kondyarpu Abhishek *Institute of Life Sciences, Bhubaneswar, India.
Nitish Kumar Mohanta *Institute of Life Sciences, Bhubaneswar, India.
Joseph JohnDepartment of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, India.
Swarupa PandaDepartment of Pediatrics, Shrirama Chandra Bhanja (SCB) Medical College and Hospital, Cuttack, India.
Amit Kumar SatapathyDepartment of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, India.
Roma RattanDepartment of Biochemistry, Shrirama Chandra Bhanja (SCB) Medical College and Hospital, Cuttack, India.
Puppala Venkat RamchanderInstitute of Life Sciences, Bhubaneswar, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole-exome sequencing of the proband and the family revealed multi-locus pathogenic variants (MGVs) leading to multiple genetic diagnoses (MGDs), explaining the complex phenotype with neuromuscular, ocular, and craniofacial abnormalities. The proband harbored a

Indexed as

consanguinityDMDduchenne muscular dystrophyFYCO1GJA1multi-locus inheritanceoculodentodigital dysplasiatrio exome sequencing

Identifiers

PMID41853139
PMCPMC12995185

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.