Evidence map›Paper›PMID 42609732›Full record

ArticleHuman mutation2026

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Mamiko Yamada, Mark Cleghorn, Prabhakara Krishnamurthy, Tegan French, David Francis, Kenjiro Kosaki, Tiong Yang Tan

Abstract read
In one paragraph

Article in Human mutation, 2026. 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. 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

7 authors.

Mamiko YamadaVictorian Clinical Genetics Services, Parkville, Australia, vcgs.org.au.ORCID https://orcid.org/0000-0002-4039-8899
Mark CleghornVictorian Clinical Genetics Services, Parkville, Australia, vcgs.org.au.
Prabhakara KrishnamurthyVictorian Clinical Genetics Services, Parkville, Australia, vcgs.org.au.
Tegan FrenchVictorian Clinical Genetics Services, Parkville, Australia, vcgs.org.au.ORCID https://orcid.org/0009-0006-6735-6564
David FrancisVictorian Clinical Genetics Services, Parkville, Australia, vcgs.org.au.
Kenjiro KosakiCenter of Medical Genetics, Keio University School of Medicine, Tokyo, Japan, keio.ac.jp.
Tiong Yang TanVictorian Clinical Genetics Services, Parkville, Australia, vcgs.org.au.ORCID https://orcid.org/0000-0001-8455-7778

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cleidocranial dysplasia (CCD) is a genetic disorder characterized by delayed cranial suture closure, hypoplastic clavicles, and dental anomalies, with varying severity. Most cases are linked to

Indexed as

Bone DevelopmentCleidocranial DysplasiaGene DuplicationHomeodomain ProteinsSkullAnimalsFemaleGenetic Association StudiesHumansMaleMicePedigreePhenotypeHomeodomain ProteinsMSX2 proteincleidocranial dysplasiaMSX2upstream duplication

Identifiers

PMID42609732
PMCPMC13478909

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.