Evidence map›Paper›PMID 34921139›Full record

ArticleHuman genome variation2021

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.

Kazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, Hidenori Haruna, Satomi Inoue, Haruka Murakami, Tatsuo Matsunaga, Takeshi Iwata, Kazushige Tsunoda, Kaoru Fujinami

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In one paragraph

Article in Human genome variation, 2021. 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

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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.

Kazuki YamazawaMedical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. kyamazawa@keio.jp.ORCID http://orcid.org/0000-0003-4895-2759
Kenji ShimizuDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.ORCID http://orcid.org/0000-0002-2732-8722
Hirofumi OhashiDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Hidenori HarunaDepartment of Pediatrics and Adolescent Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan.
Satomi InoueMedical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Haruka MurakamiMedical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Tatsuo MatsunagaMedical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.ORCID http://orcid.org/0000-0001-9647-1496
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Kazushige TsunodaLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Kaoru FujinamiMedical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. k.fujinami@ucl.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood onset caused by a loss-of-function variant in the RP2 gene. Here, we describe a 14-year-old boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-RD. The recurrence risk of each condition and the indication for potential therapeutic options for RP2-RD are discussed.

Identifiers

PMID34921139
PMCPMC8683409

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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.