Evidence map›Paper›PMID 32765930›Full record

ArticleJournal of pediatric genetics2020

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Siulan Vendramini-Pittoli, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, Roseli Maria Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Fernanda Sarquis Jehee, Lucilene Arilho Ribeiro-Bicudo, David R FitzPatrick, Maria Leine Guion-Almeida, Antonio Richieri-Costa

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

Article in Journal of pediatric genetics, 2020. 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
0.4field-weighted citation impact, top 34% 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, 3 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

10 authors at 4 institutions in 3 countries.

Siulan Vendramini-PittoliDepartment of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.ORCID 0000-0002-5290-3987
Rosana Maria Candido-SouzaDepartment of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.ORCID 0000-0001-5805-0922
Rodrigo Gonçalves QuieziMedical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom.
Roseli Maria Zechi-CeideDepartment of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
Nancy Mizue Kokitsu-NakataDepartment of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
Fernanda Sarquis JeheeDepartment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Lucilene Arilho Ribeiro-BicudoDepartment of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Goiás, Brazil.
David R FitzPatrickMedical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom.
Maria Leine Guion-AlmeidaDepartment of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
Antonio Richieri-CostaDepartment of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
Universidade de São Paulo · BRInstitute of Genetics and Cancer · GBErasmus MC · NLUniversidade Federal de Goiás · BR

Funding

Medical Research Council MC_UU_00007/3
6 · The paper itself

Abstract

The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire

Indexed as

callosal agenesislinear skin defectsmicrophthalmiaMIDAS syndromeXp22.3p22.2 deletion

Identifiers

PMID32765930
PMCPMC7396461
OpenAlexW2996845107

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.