Evidence map›Paper›PMID 30805499›Full record

ArticleInternational journal of pediatrics & adolescent medicine2017

The first case report of double homozygous of 2 different mutations in the

Hanaa Banjar, Nabil Moghrabi, Tariq Alotaibi, Sami Alotaibi, Hisham Gamalmaz

Abstract readCase Reports
In one paragraph

Article in International journal of pediatrics & adolescent medicine, 2017. 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
–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

1 citing paper in PubMed.

  1. 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

5 authors.

Hanaa BanjarKing Faisal Specialist Hospital and Research Centre, Saudi Arabia.
Nabil MoghrabiGenetics Department, Saudi Diagnostic Laboratory, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Tariq AlotaibiAlFaisal University, Saudi Arabia.
Sami AlotaibiAlFaisal University, Saudi Arabia.
Hisham GamalmazAlFaisal University, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed.

Indexed as

Cystic fibrosis transregulatory gene (CFTR)Mutations in the cystic fibrosis patientsRare double homozygous in cystic fibrosis patients

Identifiers

PMID30805499
PMCPMC6372446

What OpenQuestion holds

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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.