Evidence map›Paper›PMID 31192177›Full record

ArticleFrontiers in pediatrics2019

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and

Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 33% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

10 authors at 7 institutions in 4 countries.

Elisa Adele ColomboGenetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
Hatice Mutlu-AlbayrakDepartment of Pediatric Genetics, Cengiz Gökcek Maternity and Children's Hospital, Gaziantep, Turkey.
Yousef ShafeghatiSarem Cell Research Center and Medical Genetics Department, Sarem Women Hospital, Tehran, Iran.
Mine BalasarDepartment of Medical Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Juliette PiardCentre de génétique humaine CHU, Université de Franche-Comté, Besançon, France.
Davide GentiliniLaboratorio di Biologia Molecolare, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Anna Maria Di BlasioLaboratorio di Biologia Molecolare, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Cristina GervasiniGenetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
Lionel Van MaldergemCentre de génétique humaine CHU, Université de Franche-Comté, Besançon, France.
Lidia LarizzaLaboratorio di Citogenetica e Genetica Molecolare Umana, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
IRCCS Istituto Auxologico Italiano · ITUniversité de franche-comté · FRUniversity of Milan · ITGaziantep Children's Hospital · TRNecmettin Erbakan University · TRSarem Cell Research Center · IRUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in

Indexed as

Baller-Gerold syndromedifferential diagnosisESCO2genetic counselingpatient managementRECQL4Roberts syndrome

Identifiers

PMID31192177
PMCPMC6546804
OpenAlexW2947896704

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.