Evidence map›Paper›PMID 29615845›Full record

ArticleThe application of clinical genetics2018

Novel mutation in

Harry Pachajoa, William López-Quintero, Sara Vanegas, Claudia L Montoya, Diana Ramírez-Montaño

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

Article in The application of clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 40% 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, 5 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Harry PachajoaDepartment of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia.
William López-QuinteroDermatology Department, Fundación Valle del Lili, Cali, Valle del Cauca, Colombia.
Sara VanegasDepartment of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia.
Claudia L MontoyaDermatology Department, Fundación Valle del Lili, Cali, Valle del Cauca, Colombia.
Diana Ramírez-MontañoDepartment of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia.
Fundación Valle del Lili · COIcesi University · CO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionMutations in CASE REPORT: We report an 8-year-old female patient with congenital generalized hypertrichosis and coarse facial appearance but without cardiovascular or skeletal compromise. Whole exome sequencing revealed a novel de novo heterozygous mutation in

conclusionThis is the first report of a South-American patient with mutation in

Indexed as

acromegaloid featuresAFA syndromeCantú syndromehypertrichosis

Identifiers

PMID29615845
PMCPMC5870921
OpenAlexW2793671403

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.