Evidence map›Paper›PMID 30580289›Full record

ArticleBMJ case reports2018

PIBIDS syndrome in two Brazilian siblings.

Kerstin Taniguchi Abagge, Felipe Haupenthal, Gabriella Yamashita Felber, Salmo Raskin

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

Article in BMJ case reports, 2018. 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 50% 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, 7 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

4 authors at 1 institution in 1 country.

Kerstin Taniguchi AbaggeDepartment of Pediatrics, Universidade Federal do Parana, Curitiba, Brazil.
Felipe HaupenthalDepartment of Pediatrics, Universidade Federal do Parana, Curitiba, Brazil.
Gabriella Yamashita FelberDepartment of Pediatrics, Universidade Federal do Parana, Curitiba, Brazil.
Salmo RaskinDepartment of Genetics, Universidade Federal do Parana, Curitiba, Brazil.
Universidade Federal do Paraná · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. It has a variable clinical expression and some cases might be associated with photosensitivity, resulting in the acronym PIBIDS (

Indexed as

Adaptor Proteins, Signal TransducingBrazilDNA-Binding ProteinsDNA HelicasesFemaleHumansMaleSiblingsTranscription FactorsTranscription Factors, TFIITrichothiodystrophy SyndromesXeroderma Pigmentosum Group D ProteinYoung AdultAdaptor Proteins, Signal TransducingDNA-Binding ProteinsDNA HelicasesERCC2 protein, humanGTF2H5 protein, humanMPLKIP protein, humanRNF113A protein, humanTranscription FactorsTranscription Factors, TFIItranscription factor TFIIFXeroderma Pigmentosum Group D ProteinXPBC-ERCC-3 proteindermatologygenetic screening / counselling

Identifiers

PMID30580289
PMCPMC6307604
OpenAlexW2905769336

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.