Evidence map›Paper›PMID 40642286›Full record

ArticleCase reports in endocrinology2025

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome.

Erina Suzuki, Hirohito Shima, Aki Ueda, Kazuhiko Nakabayashi, Keiko Matsubara, Yoko Kuroki, Junko Kanno, Maki Fukami

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. TCF12-related bicoronal craniosynostosis complicated by a large middle fossa arachnoid cyst and developmental regression: a case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    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.

Erina SuzukiDepartment of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan.ORCID https://orcid.org/0000-0001-5165-2007
Hirohito ShimaDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.ORCID https://orcid.org/0000-0003-1172-7363
Aki UedaDivision of Diversity Research, National Center for Child Health and Development, Tokyo, Japan.ORCID https://orcid.org/0009-0003-6115-6543
Kazuhiko NakabayashiDepartment of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan.ORCID https://orcid.org/0000-0003-2927-0963
Keiko MatsubaraDivision of Diversity Research, National Center for Child Health and Development, Tokyo, Japan.ORCID https://orcid.org/0000-0001-6254-9216
Yoko KurokiDivision of Diversity Research, National Center for Child Health and Development, Tokyo, Japan.ORCID https://orcid.org/0000-0003-4697-8007
Junko KannoDepartment of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.ORCID https://orcid.org/0009-0003-9026-4244
Maki FukamiDepartment of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan.ORCID https://orcid.org/0000-0001-9971-4035

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

delayed pubertygonadotropin deficiencymutationsplice site

Identifiers

PMID40642286
PMCPMC12245484

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.