A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.

Spiros Vittas, Maria Bisba, Georgia Christopoulou, Loukia Apostolakopoulou, Roser Pons, Pantelis Constantoulakis

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In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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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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3 · Its place in the literature

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0 citing papers in PubMed, 0 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Spiros VittasMicroGenome, 25th Martiou 55 Str., 564 29 Thessaloniki, Greece.ORCID 0000-0003-2879-6074

Maria BisbaMicroGenome, 25th Martiou 55 Str., 564 29 Thessaloniki, Greece.

Georgia ChristopoulouGenotypos Science Labs Medical SA, 3-5 Ilision Str., 115 28 Athens, Greece.

Loukia ApostolakopoulouFirst Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, 115 27 Athens, Greece.

Roser PonsFirst Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, 115 27 Athens, Greece.

Pantelis ConstantoulakisGenotypos Science Labs Medical SA, 3-5 Ilision Str., 115 28 Athens, Greece.

Athens Medical Center · GRNational and Kapodistrian University of Athens · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication events. 17p13.3 microduplication syndrome is a rare condition, reported only in 40 cases worldwide, which is found in the Miller-Dieker chromosomal region, presenting a wide range of phenotypic manifestations. Usually, the duplicated area is de novo and varies in size from 1.8 to 4.0 Mbp. Critical genes for this region are

Indexed as

Chromosome DisordersClassical Lissencephalies and Subcortical Band HeterotopiasHearing Loss, SensorineuralHearing Loss, UnilateralChromosome DeletionChromosome DuplicationComparative Genomic HybridizationFemaleHumans17p13.3array-CGHmicroduplicationneurodevelopmental disordersWESYHWAE

Identifiers

PMID37510238

DOI10.3390/genes14071333

PMCPMC10379727

OpenAlexW4382138101

What OpenQuestion holds

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LicenceCC BY

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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.