Evidence map›Paper›PMID 36246631›Full record

ArticleFrontiers in genetics2022

Case report: A novel case of parental mosaicism in

Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares, Carmen Palma Milla, Beatriz Puisac, Antonio Musio and 2 more

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

Article in Frontiers in genetics, 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
0.4field-weighted citation impact, top 41% 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, 5 citations in OpenAlex.

  1. Review
  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

12 authors at 5 institutions in 2 countries.

Marta Gil-SalvadorUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
Ana Latorre-PellicerUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
Cristina Lucia-CamposUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
María ArnedoUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
María Teresa DarnaudeUnit of Genetics, University Hospital of Móstoles, Madrid, Spain.
Aránzazu Díaz de BustamanteUnit of Genetics, University Hospital of Móstoles, Madrid, Spain.
Rebeca VillaresNeuropediatrics, University Hospital of Móstoles, Madrid, Spain.
Carmen Palma MillaService of Genetics, University Hospital "12 de Octubre", Madrid, Spain.
Beatriz PuisacUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
Antonio MusioInstitute for Biomedical Technologies (ITB), National Research Council (CNR), Pisa, Italy.
Feliciano J RamosUnit of Clinical Genetics, Service of Paediatrics, Department of Paediatrics, University Hospital "Lozano Blesa", School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
Juan PiéUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, CIBERER and IIS-Aragon, University of Zaragoza, Zaragoza, Spain.
Universidad de Zaragoza · ESHospital Universitario de Móstoles · ESInstituto de Investigación Sanitaria Aragón · ESNational Research Council · ITResearch Institute Hospital 12 de Octubre · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow this inheritance pattern. However, the high prevalence of somatic mosaicism recently reported in this syndrome (∼13%), together with the disparity observed in tissue distribution of the causal variant, suggests that its prevalence in this disorder could be underestimated. Here, we report a new case of parental gonadosomatic mosaicism in

Indexed as

case reportCornelia de Lange syndromedeep-sequencinggenetic counselingparental mosaicismSMC1AX-linked

Identifiers

PMID36246631
PMCPMC9554350
OpenAlexW4297541827

What OpenQuestion holds

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Registered trials

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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.