Evidence map›Paper›PMID 34573388›Full record

ArticleGenes2021

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in

Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara and 5 more

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

Article in Genes, 2021. 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
0.5field-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, 4 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

15 authors at 4 institutions in 1 country.

Elisabetta FlexDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0002-6802-1356
Valentina ImperatoreMedical Genetics Unit, University and Hospital of Perugia, 06129 Perugia, Italy.ORCID 0000-0002-3608-6999
Giovanna CarpentieriDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Alessandro BrusellesDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Andrea CiolfiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Simone PizziGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Maria Giovanna TedescoMedical Genetics Unit, University and Hospital of Perugia, 06129 Perugia, Italy.
Daniela RogaiaMedical Genetics Unit, University and Hospital of Perugia, 06129 Perugia, Italy.
Amedea MencarelliMedical Genetics Unit, University and Hospital of Perugia, 06129 Perugia, Italy.
Giuseppe Di CaraPediatric Clinic, University and Hospital of Perugia, 06129 Perugia, Italy.
Alberto VerrottiPediatric Clinic, University and Hospital of Perugia, 06129 Perugia, Italy.
Stefania TroianiNeonatal Intensive Care Unit, University and Hospital of Perugia, 06129 Perugia, Italy.
Giuseppe MerlaDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0001-5078-928X
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0001-7736-9672
Paolo PronteraMedical Genetics Unit, University and Hospital of Perugia, 06129 Perugia, Italy.
University of Perugia · ITBambino Gesù Children's Hospital · ITIstituto Superiore di Sanità · ITUniversity of Naples Federico II · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-β binding protein 3 (

Indexed as

AdolescentAmelogenesis ImperfectaConsanguinityExome SequencingHumansLatent TGF-beta Binding ProteinsMaleOsteochondrodysplasiasPedigreePeruPhenotypeRare DiseasesLatent TGF-beta Binding ProteinsLTBP3 protein, humanamelogenesis imperfectabrachyolmiaconsanguinityLTBP3whole exome sequencing

Identifiers

PMID34573388
PMCPMC8470690
OpenAlexW3200571282

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.