Evidence map›Paper›PMID 38432894›Full record

ArticleInternal medicine (Tokyo, Japan)2024

Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.

Yutaka Hasegawa, Yoshihiko Takahashi, Kan Nagasawa, Hirofumi Kinno, Tomoyasu Oda, Mari Hangai, Yoshimi Odashima, Yoko Suzuki, Jun Shimizu, Toshihiko Ando and 6 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 32% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

16 authors at 3 institutions in 1 country.

Yutaka HasegawaDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Yoshihiko TakahashiDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Kan NagasawaDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Hirofumi KinnoDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Tomoyasu OdaDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Mari HangaiDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Yoshimi OdashimaDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Yoko SuzukiDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Jun ShimizuDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Toshihiko AndoDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Isao EgawaDepartment of Ophthalmology, School of Medicine, Iwate Medical University, Japan.
Kouhei HashizumeDepartment of Ophthalmology, School of Medicine, Iwate Medical University, Japan.
Koji NataDivision of Medical Biochemistry, School of Pharmacy, Iwate Medical University, Japan.
Daisuke YabeDepartment of Diabetes, Endocrinology and Metabolism/Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, Japan.
Yukio HorikawaDepartment of Diabetes, Endocrinology and Metabolism/Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, Japan.
Yasushi IshigakiDivision of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Iwate Medical University · JPGifu University · JPGifu University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; keratoconus, and acquired perforating dermatosis. This case report provides valuable resources concerning the clinical spectrum of rare 17q12 deletion syndrome.

Indexed as

Central Nervous System DiseasesDiabetes Mellitus, Type 2Kidney Diseases, CysticAdultDental EnamelFaceHeterozygoteHumansJapanMale17q12 deletion syndromehepatocyte nuclear factor 1β (HNF1B)maturity-onset diabetes of the young (MODY)

Identifiers

PMID38432894
PMCPMC10982014
OpenAlexW4392299180

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.