Evidence map›Paper›PMID 31976145›Full record

ArticleJournal of pediatric genetics2020

Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without

Ana Herrero-García, Purificación Marín-Reina, Gloria Cabezuelo-Huerta, M Belén Ferrer-Lorente, Mónica Rosello, Carmen Orellana, Francisco Martínez, Antonio Pérez-Aytés

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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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 92% 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, 3 citations in OpenAlex.

  1. Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.International journal of molecular sciences · 2026
    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

8 authors at 2 institutions in 1 country.

Ana Herrero-GarcíaDepartment of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain.
Purificación Marín-ReinaDysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
Gloria Cabezuelo-HuertaDepartment of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain.
M Belén Ferrer-LorenteDepartment of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain.
Mónica RoselloDepartment of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
Carmen OrellanaDepartment of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
Francisco MartínezDepartment of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
Antonio Pérez-AytésDysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
Leitat Technological Center · ESHospital Universitari i Politècnic La Fe · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Langer-Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the

Indexed as

8q23.3-q24.1 deletionCornelia de Lange's syndromeLanger–Giedion's syndromemultiple exostosespremature adrenarche

Identifiers

PMID31976145
PMCPMC6976337
OpenAlexW2972105615

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.