Evidence map›Paper›PMID 35680838›Full record

ArticleHuman genome variation2022

Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi

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

Article in Human genome variation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 93% 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, 1 synthesis or guideline pooled it, 0 citations in OpenAlex.

  1. Pooled it
  2. Review
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.

Keisuke WatanabeDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan.
Atsuko NoguchiDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan. atsuko@doc.med.akita-u.ac.jp.ORCID http://orcid.org/0000-0002-5627-4217
Ikuko TakahashiDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan.
Mamiko YamadaCenter for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Hisato SuzukiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.ORCID http://orcid.org/0000-0002-8122-7180
Toshiki TakenouchiDepartment of Pediatrics, Keio University School of Medicine, Tokyo, 160-8582, Japan.ORCID http://orcid.org/0000-0002-7311-4135
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Tsutomu TakahashiDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, 010-8543, Japan.
Akita University · JPKeio University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here, we report a Japanese patient with Simpson-Golabi-Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.

Identifiers

PMID35680838
PMCPMC9184466
OpenAlexW4281688259

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.