Evidence map›Paper›PMID 31602194›Full record

ArticleMolecular syndromology2019

Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome.

Lélia L Gonçalves Ramos, Irene Plaza Pinto, Rajib Deb, Cristiano L Ribeiro, Damiana Mírian da Cruz E Cunha, Lysa Bernardes Minasi, Antonio M T Cordeiro Silva, Aparecido D da Cruz

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 96% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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 2 countries.

Lélia L Gonçalves RamosInstituto de Ciências da Saúde, Universidade Paulista, Campus de Goiânia, Goiânia, Brazil.
Irene Plaza PintoNúcleo de Pesquisas Replicon, Departamento de Ciências Agrárias e Biológicas, Pontifícia Universidade Católica de Goiás, Goiânia, Brazil.
Rajib DebNúcleo de Pesquisas Replicon, Departamento de Ciências Agrárias e Biológicas, Pontifícia Universidade Católica de Goiás, Goiânia, Brazil.
Cristiano L RibeiroNúcleo de Pesquisas Replicon, Departamento de Ciências Agrárias e Biológicas, Pontifícia Universidade Católica de Goiás, Goiânia, Brazil.
Damiana Mírian da Cruz E CunhaNúcleo de Pesquisas Replicon, Departamento de Ciências Agrárias e Biológicas, Pontifícia Universidade Católica de Goiás, Goiânia, Brazil.
Lysa Bernardes MinasiNúcleo de Pesquisas Replicon, Departamento de Ciências Agrárias e Biológicas, Pontifícia Universidade Católica de Goiás, Goiânia, Brazil.
Antonio M T Cordeiro SilvaInstituto de Ciências da Saúde, Universidade Paulista, Campus de Goiânia, Goiânia, Brazil.
Aparecido D da CruzNúcleo de Pesquisas Replicon, Departamento de Ciências Agrárias e Biológicas, Pontifícia Universidade Católica de Goiás, Goiânia, Brazil.
Pontifícia Universidade Católica de Goiás · BRUniversidade Paulista · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the case of a child from Central Brazil with global developmental delay (GDD), syndromic features, and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the

Indexed as

Chromosomal microarray analysisDKC1Genetic syndromeGlobal developmental delay

Identifiers

PMID31602194
PMCPMC6738202
OpenAlexW2941936158

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.