Evidence map›Paper›PMID 29204067›Full record

ArticleMolecular vision2017

Heterozygous mutation in

Maram Ea Abdalla-Elsayed, Patrik Schatz, Christine Neuhaus, Arif O Khan

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

Article in Molecular vision, 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
0.1field-weighted citation impact, top 47% 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. 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

4 authors at 2 institutions in 2 countries.

Maram Ea Abdalla-ElsayedJeddah Eye Hospital, Jeddah, Kingdom of Saudi Arabia.
Patrik SchatzKing Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
Christine NeuhausBioscientia Center for Human Genetics, Ingelheim, Germany.
Arif O KhanEye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
King Fahad Hospital Jeddah · SAKing Khaled Eye Specialist Hospital · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Heterozygous mutations in Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy. He also had bilateral microphthalmos and a slim prepubertal appearance; growth hormone levels were within normal ranges. Next-generation sequencing of a retinal dystrophy gene panel revealed a heterozygous deletion c.485delC (p.Pro162G.Infs*24) in exon 5 of Conclusions: This second report of maculopathy associated with a heterozygous mutation in

Indexed as

Sequence DeletionAdolescentDNA Mutational AnalysisElectroretinographyExonsFluorescein AngiographyHeterozygoteHigh-Throughput Nucleotide SequencingHumansMacula LuteaMaleMicrophthalmosOtx Transcription FactorsPolymerase Chain ReactionRetinal DystrophiesTomography, Optical CoherenceOTX2 protein, humanOtx Transcription Factors

Identifiers

PMID29204067
PMCPMC5693023
OpenAlexW2798244326

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.