Evidence map›Paper›PMID 32765932›Full record

ArticleJournal of pediatric genetics2020

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the

Hugo H Abarca-Barriga, Milana Trubnykova, Félix Chavesta-Velásquez, Claudia Barletta-Carrillo, Marco Ordoñez-Linares, Andrea Rondón-Abuhadba

Open access · greenAbstract readCase Reports
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
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

2 citing papers in PubMed, 3 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

6 authors at 4 institutions in 1 country.

Hugo H Abarca-BarrigaServicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.ORCID 0000-0002-0276-2557
Milana TrubnykovaServicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.ORCID 0000-0001-5254-0920
Félix Chavesta-VelásquezServicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.ORCID 0000-0002-4441-9167
Claudia Barletta-CarrilloServicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.ORCID 0000-0001-9982-5368
Marco Ordoñez-LinaresHospital Antonio Lorena, Cusco, Perú.ORCID 0000-0002-7550-5842
Andrea Rondón-AbuhadbaEscuela Profesional de Medicina Humana, Universidad Nacional de San Antonio Abad del Cusco, Cusco, Perú.ORCID 0000-0003-2927-3515
Instituto Nacional de Salud del Niño · PENational University of Saint Anthony the Abbot in Cuzco · PENational University of San Marcos · PEUniversidad Científica del Sur · PE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum disorder, seizures, and choanal atresia. The entity is caused probably by haploinsufficiency for

Indexed as

chromosomal microarray analysisCNVcongenital abnormalitiesdevelopment delayFOXP1haploinsufficiency

Identifiers

PMID32765932
PMCPMC7396471
OpenAlexW3000506907

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.