Evidence map›Paper›PMID 38721577›Full record

ArticleJournal of pediatric genetics2024

Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes.

Parminder Kaur, Chakshu Chaudhry, Anupriya Kaur, Inusha Panigrahi, Priyanka Srivastava

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Article in Journal of pediatric genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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.

Parminder KaurDepartment of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Chakshu ChaudhryDepartment of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Anupriya KaurDepartment of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.ORCID 0000-0002-5307-5677
Inusha PanigrahiDepartment of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Priyanka SrivastavaDepartment of Pediatrics, Genetic and Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genetic influences on human growth are being increasingly deciphered. Silver-Russell and Beckwith-Wiedemann syndromes (SRS; BWS) are two relatively common genetic syndromes with under- and overgrowth-related issues being the reason for referral. Aberration in genomic imprinting is the underlying genetic pathomechanism behind these syndromes. Herein, we described a series of children with these two growth disorders and give an orientation to the reader of the concept of imprinting as well as the genetic testing strategy and counseling to be offered in these syndromes.

Indexed as

Beckwith–Wiedemann syndromeepigeneticsgenomic imprintingmethylation testingSilver–Russell syndrome

Identifiers

PMID38721577
PMCPMC11076074

What OpenQuestion holds

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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.