Evidence map›Paper›PMID 30967749›Full record

ArticleClinical medicine insights. Case reports2019

A Novel Variant c.847T>C in

Inder Pal Singh Kochar, Aashish Sethi, Ayesha Ahamad

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical medicine insights. Case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 48% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. A First-Case Report of Pycnodysostosis in an Omani Boy.Journal of pediatric genetics · 2022
    Article
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

3 authors at 2 institutions in 1 country.

Inder Pal Singh KocharDepartment of Paediatric Endocrinology, Indraprastha Apollo Hospital, Delhi, India.
Aashish SethiDepartment of Paediatric Endocrinology, Indraprastha Apollo Hospital, Delhi, India.
Ayesha AhamadDepartment of Pediatrics, Aligarh Muslim University, Aligarh, India.
Indraprastha Apollo Hospitals · INAligarh Muslim University · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the

Indexed as

CTSK genenovel variantPycnodysostosis

Identifiers

PMID30967749
PMCPMC6444763
OpenAlexW2933056195

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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 OpenQuestion graph.