Evidence map›Paper›PMID 38993717›Full record

ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2024

Yuki Muranishi, Tomoyo Itonaga, Kenji Ihara, Yuko Katoh-Fukui, Satoshi Tamaoka, Atsushi Hattori, Masafumi Kon, Nobuo Shinohara, Maki Fukami

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

Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 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

9 authors.

Yuki MuranishiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Tomoyo ItonagaDepartment of Pediatrics, Oita University Faculty of Medicine, Yufu, Japan.
Kenji IharaDepartment of Pediatrics, Oita University Faculty of Medicine, Yufu, Japan.
Yuko Katoh-FukuiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Satoshi TamaokaDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Atsushi HattoriDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Masafumi KonDepartment of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Nobuo ShinoharaDepartment of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Maki FukamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Noonan syndrome is a congenital disorder characterized by distinctive facial appearance, congenital heart defects, short stature, and skeletal dysplasia. Although boys with Noonan syndrome frequently exhibit cryptorchidism, a mild form of 46,XY disorders of sex development (DSD), they barely manifest more severe genital abnormalities. Here, we report a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features. He had no cardiac abnormalities or skeletal dysplasia. His score in the Noonan syndrome diagnostic criteria (36 of 157 points, 23%) was lower than the cutoff for diagnosis (50%). Whole-exome sequencing identified a

Indexed as

DSDhypospadiasmutation screeningoligogenicWES

Identifiers

PMID38993717
PMCPMC11234187

What OpenQuestion holds

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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.