Evidence map›Paper›PMID 40814504›Full record

ArticleJournal of family medicine and primary care2025

A child with tuberous sclerosis having Novel NRAS gene mutation.

P N Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of family medicine and primary care, 2025. 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

5 authors.

P N LiveinaiDepartment of Pediatrics, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
Neeraj KumarDepartment of Pediatrics, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
Jyoti KadianDepartment of Pediatrics, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
Dinkar YadavDepartment of Pediatrics, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
Kapil BhallaDepartment of Pediatrics, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs, such as the brain, heart, kidneys, skin, lungs, and liver. This case report is about an 11-month-old boy with epilepsy and hypomelanotic macules. MRI of the brain showed cortical tubers and subependymal nodule which confirms the diagnosis of Tuberous Sclerosis. Genetic analysis by Whole Exome Sequencing showed a novel genetic mutation in NRAS gene suggestive of Noonan syndrome-6.

Indexed as

Hypomelanotic maculesNoonan syndromesubependymal nodulesvigabatrin

Identifiers

PMID40814504
PMCPMC12349795

What Socratic holds

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Registered trials

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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 Socratic graph.