Evidence map›Paper›PMID 35707587›Full record

ArticleMolecular syndromology2022

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.

Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal, Özlem Giray Bozkaya

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

Article in Molecular syndromology, 2022. 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 60% 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, 1 citations in OpenAlex.

  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

6 authors at 1 institution in 1 country.

Tayfun CinletiBranch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.
Ceren Yılmaz UzmanBranch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.
Şefika AkyolBranch of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.
Özlem TüfekçiBranch of Pediatric Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.
Murat Derya ErçalBranch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.
Özlem Giray BozkayaBranch of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.
Dokuz Eylül University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed a heterozygous pathogenic variant in the

Indexed as

Autosomal recessive deafness-4Hearing lossOsteochondromaPelger-Huet anomalyPendred syndrome

Identifiers

PMID35707587
PMCPMC9149400
OpenAlexW4206728209

What OpenQuestion holds

Textmetadata
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.