Evidence map›Paper›PMID 39622812›Full record

ArticleHuman genome variation2024

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.

Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. 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
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.

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

10 authors.

Erika NakajimaDepartment of Obstetrics and Gynecology, Asahikawa-Kosei General Hospital, 1-24-111, Ichijo-dori, Asahikawa, Hokkaido, Japan.
Yuko YokohamaDepartment of Perinatal Medical Center, Asahikawa Medical University Hospital, 2-1-1-1 Midorigaoka-Higashi, Asahikawa, Hokkaido, Japan. yukoy@asahikawa-med.ac.jp.
Saori SugiyamaDepartment of Obstetrics and Gynecology, Asahikawa-Kosei General Hospital, 1-24-111, Ichijo-dori, Asahikawa, Hokkaido, Japan.
Mio TaketazuDepartment of Pediatrics, Asahikawa-Kosei General Hospital, 1-24-111, Ichijo-dori, Asahikawa, Hokkaido, Japan.
Kenrokuro MitsubeDepartment of Obstetrics and Gynecology, Asahikawa-Kosei General Hospital, 1-24-111, Ichijo-dori, Asahikawa, Hokkaido, Japan.
Takahiro YamadaDivision of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.
Anna HammarsjöDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Giedre GrigelionieneDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-9601-3137
Gen NishimuraDepartment of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Yoshio MakitaDepartment of Genetic Counseling, Asahikawa Medical University Hospital, 2-1-1-1 Midorigaoka-Higashi, Asahikawa, Hokkaido, Japan.ORCID http://orcid.org/0000-0002-0341-5709

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.

Identifiers

PMID39622812
PMCPMC11612155

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.