Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.

Misako Okuno, Tsutomu Ogata, Kazuhiko Nakabayashi, Tatsuhiko Urakami, Maki Fukami, Keisuke Nagasaki

Open access · goldAbstract read

In one paragraph

Article in Human genome variation, 2015. 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 83% 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, 1 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

6 authors at 3 institutions in 1 country.

Misako OkunoDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.

Tsutomu OgataDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.ORCID 0000-0001-7178-9991

Kazuhiko NakabayashiDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development , Tokyo, Japan.

Tatsuhiko UrakamiDepartment of Pediatrics, Nihon University School of Medicine , Tokyo, Japan.

Maki FukamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.

Keisuke NagasakiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

National Center For Child Health and Development · JPHamamatsu University School of Medicine · JPNihon University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a male patient with three copy-number variations (CNVs) and unique phenotype. He carried ~11.2 Mb terminal duplication on 4q, ~13.4 Mb terminal deletion on 7q and ~1.7 Mb interstitial duplication on Xp22.31, which were identified by array-based comparative genomic hybridization. He manifested mental retardation, mild brain anomalies and skeletal deformities ascribable to these CNVs, together with central precocious puberty and mild adrenocorticotropic hormone overproduction of unknown etiologies.

Identifiers

PMID27081533

DOI10.1038/hgv.2015.20

PMCPMC4785576

OpenAlexW2467902001

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-SA

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.