Evidence map›Paper›PMID 38927623›Full record

ArticleGenes2024

HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.

María Carmen Martínez-Romero, María Encarnación Hernández-Contreras, Juan Antonio Bafalliu-Vidal, María Barreda-Sánchez, Teresa Martínez-Menchón, Virginia Cabello-Chaves, Encarna Guillén-Navarro

Abstract readCase Reports
In one paragraph

Article in Genes, 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

7 authors.

María Carmen Martínez-RomeroMolecular Genetics Section, Biochemistry and Clinical Genetics Center, University Clinical Hospital Virgen de la Arrixaca, 30120 Murcia, Spain.ORCID 0000-0003-1853-3203
María Encarnación Hernández-ContrerasInternal Medicine Service, University Clinical Hospital Virgen de la Arrixaca, 30120 Murcia, Spain.
Juan Antonio Bafalliu-VidalMolecular Genetics Section, Biochemistry and Clinical Genetics Center, University Clinical Hospital Virgen de la Arrixaca, 30120 Murcia, Spain.
María Barreda-SánchezPediatric Research, Murcian Institute for Biosanitary Research (IMIB) Pascual Parrilla, 30120 Murcia, Spain.ORCID 0000-0002-4728-8174
Teresa Martínez-MenchónDermatology Department, University Clinical Hospital Virgen de la Arrixaca, 30120 Murcia, Spain.
Virginia Cabello-ChavesNephrology Department, University Clinical Hospital Virgen del Rocío, 41013 Sevilla, Spain.
Encarna Guillén-NavarroPediatric Research, Murcian Institute for Biosanitary Research (IMIB) Pascual Parrilla, 30120 Murcia, Spain.ORCID 0000-0002-2915-7381

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

HELIX syndrome (Hypohidrosis-Electrolyte disturbances-hypoLacrimia-Ichthyosis-Xerostomia) (MIM#617671) (ORPHA:528105), described in 2017, is due to an abnormal claudin 10 b protein, secondary to pathogenic

Indexed as

ClaudinsAdultEctodermal DysplasiaHumansHypohidrosisIchthyosisMalePedigreePhenotypeclaudin 10ClaudinsalacrimiaCLDN10HELIX syndromehypohidrosishypokalemiaichthyosis

Identifiers

PMID38927623
PMCPMC11202757

What OpenQuestion holds

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Registered trials

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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.