Evidence map›Paper›PMID 36553536›Full record

ArticleGenes2022

Agnathia-Otocephaly Complex Due to a De Novo Deletion in the

Marco Fabiani, Francesco Libotte, Katia Margiotti, Dina Khader Issa Tannous, Davide Sparacino, Maria Pia D'Aleo, Francesca Monaco, Claudio Dello Russo, Alvaro Mesoraca, Claudio Giorlandino

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

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.1field-weighted citation impact, top 19% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. 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 1 institution in 1 country.

Marco FabianiALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.ORCID 0000-0002-8763-0114
Francesco LibotteALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
Katia MargiottiALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.ORCID 0000-0003-0432-1525
Dina Khader Issa TannousSchool of Medicine and Surgery, Department of Obstetrics and Gynecology, UniCamillus-Saint Camillus International University of Health Sciences, Via di Sant'Alessandro, 8, 00131 Rome, Italy.
Davide SparacinoALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
Maria Pia D'AleoALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
Francesca MonacoALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
Claudio Dello RussoALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
Alvaro MesoracaALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
Claudio GiorlandinoALTAMEDICA, Human Genetics Laboratory, Viale Liegi 45, 00198 Rome, Italy.
Saint Camillus International University of Health and Medical Sciences · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a small oral aperture with or without a tongue hypoplasia. Its incidence is reported as 1 in 70,000 births and its etiology has been attributed to both genetic and teratogenic causes. AOC is characterized by a wide severity clinical spectrum even when occurring within the same family, ranging from a mild mandibular defect to an extreme facial aberration incompatible with life. Most AOC cases are due to a de novo sporadic mutation. Given the genetic heterogeneity, many genes have been reported to be implicated in this disease but to date, the link to only two genes has been confirmed in the development of this complex: the orthodenticle homeobox 2 (

Indexed as

Abnormalities, MultipleCraniofacial AbnormalitiesJaw AbnormalitiesFemaleGenes, HomeoboxHomeodomain ProteinsHumansOtx Transcription FactorsPregnancyHomeodomain ProteinsOTX2 protein, humanOtx Transcription FactorsPRRX1 protein, humanagnathiaAOCclinical exome sequencingde novo variantotocephalyOTX2synotia and proboscis

Identifiers

PMID36553536
PMCPMC9778614
OpenAlexW4311100500

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.