Evidence map›Paper›PMID 37501760›Full record

ArticleGlobal medical genetics2023

Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.

N Sreedevi, N Swapna, Santosh Maruthy, T Jayakumar, Charles Sylvester

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PubMed Full text at PMC Publisher
In one paragraph

Article in Global medical genetics, 2023. 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, top 82% of its field
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, 0 citations in OpenAlex.

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 at 1 institution in 1 country.

N SreedeviDepartment of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, India.
N SwapnaDepartment of Speech-Language Pathology, All India Institute of Speech and Hearing, Mysore, India.
Santosh MaruthyDepartment of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, India.
T JayakumarDepartment of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, India.
Charles SylvesterUnit for Human Genetics, All India Institute of Speech and Hearing, Mysore, India.ORCID 0000-0003-0724-3817
Dr. S.R. Chandrasekhar Institute of Speech and Hearing · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Joubert syndrome (JBTS) is a rare autosomal recessive or X-linked congenital brain malformation with strong genetic heterogeneity. Other neurological features of JBTS include hypotonia, ataxia, developmental delay, and cognitive impairment. Hearing loss with JBTS has been reported in the literature. We present the case of a 3.5-year-old boy born to a healthy consanguineous South Indian couple who was presented with ataxic cerebral palsy (CP) and hearing impairment; medical reports confirmed typical brain malformations of JBTS. Hearing impairment was screened by audiological assessment, which confirmed the presence of severe-profound hearing loss with outer hair cell dysfunction. Whole-exome sequencing (WES) was performed to know the molecular aspects of the condition and to detect any novel mutations. The homozygous mutation

Indexed as

AHI1GJB2hearing lossJoubert syndrome

Identifiers

PMID37501760
PMCPMC10370468
OpenAlexW4385269958

What OpenQuestion holds

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LicenceCC BY
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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 OpenQuestion graph.