Evidence map›Paper›PMID 38927615›Full record

ArticleGenes2024

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the

Gloria Fraga, M Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M José García-Borau, Roser Torra, Elisabet Ars

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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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.

Gloria FragaPediatric Nephrology Department, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), RICORS-SAMID, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain.
M Alba HerrerosNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain.
Marc PybusMolecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain.
Miriam Aza-CarmonaMolecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain.
Melissa Pilco-TeranNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain.
Mónica FurlanoNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain.
M José García-BorauNeonatology Unit, Pediatrics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain.
Roser TorraNephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), Department of Medicine, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain.
Elisabet ArsMolecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 (Kidney Disease), 08193 Barcelona, Catalonia, Spain.ORCID 0000-0002-4118-4358

Funding

Fundacio la Marató de TV3 202036-30Instituto de salud carlos III PI19/01633Instituto de salud carlos III PI22/00361Instituto de salud carlos III PI23/00426Mecanismo para la Recuperación y la Resiliencia (MRR) and SPACKDc PMP21/00109Ricors program RD21/0005/0001
6 · The paper itself

Abstract

X-linked hypophosphatemia (XLH) is a rare inherited disorder of renal phosphate wasting with a highly variable phenotype caused by loss-of-function variants in the

Indexed as

Familial Hypophosphatemic RicketsPedigreePHEX Phosphate Regulating Neutral EndopeptidaseRNA Splice SitesAdultFemaleGenetic Diseases, X-LinkedHumansMaleMutationPhenotypeRNA SplicingPHEX Phosphate Regulating Neutral EndopeptidasePHEX protein, humanRNA Splice Sitesnon-canonical splice site variantPHEX geneX-linked hypophosphatemia

Identifiers

PMID38927615
PMCPMC11202505

What OpenQuestion holds

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Read underepoch 390

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.