Evidence map›Paper›PMID 34965700›Full record

ArticleJournal of clinical research in pediatric endocrinology2023

Novel Homozygous Nonsense Mutation in the

Abolfazl Heidari, Ali Homaei, Fatemeh Saffari

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

Article in Journal of clinical research in pediatric endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Case Report: Expanding theFrontiers in pediatrics · 2026
    Article
  2. Review
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.

Abolfazl HeidariReference Laboratory of Qazvin Medical University, Iran Sana Medical Genetics Laboratory, Qazvin, IranORCID 0000-0002-3392-5945
Ali HomaeiShahid Beheshti University of Medical Sciences, Department of General Surgery, Tehran, IranORCID 0000-0001-5926-5482
Fatemeh SaffariQazvin University of Medical Sciences, Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Department of Pediatric Endocrinology, Qazvin, IranORCID 0000-0002-8366-5205
Qazvin University of Medical Sciences · IRShahid Beheshti University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are presented. Whole exome sequencing of DNA enriched for exonic regions was performed with SureSelect 38Mbp all exon kit v. 7.0. The two siblings presented with different clinical manifestations of OPPG. The younger female sibling had blindness and severe osteoporosis with multiple fractures, while her older brother was also blind but with less severe osteoporosis and no fractures. On analysis, a novel homozygous nonsense mutation (c.351G>A) in exon 2 of

Indexed as

Low Density Lipoprotein Receptor-Related Protein-5OsteoporosisCodon, NonsenseFemaleHumansMaleMutationOsteogenesis ImperfectaSiblingsCodon, NonsenseLow Density Lipoprotein Receptor-Related Protein-5LRP5 protein, humanLRP5 genenonsense mutationOsteoporosis-pseudoglioma syndrome

Identifiers

PMID34965700
PMCPMC10448547
OpenAlexW4200281371

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.