Case Report: Deep intronic

Susanne Spranger, Helene Faust, Patricia Duffek, Susanna Schubert, Heyko Skladny, Peter Kovacs, Anke Tönjes, Denny Popp

Abstract readCase Reports

In one paragraph

Article in Frontiers in endocrinology, 2026. 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

8 authors.

Susanne SprangerMedical Department III, Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.

Helene FaustInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Patricia DuffekInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Susanna SchubertInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Heyko SkladnySYNLAB MVZ Humangenetik Mannheim GmbH, Mannheim, Germany.

Peter KovacsMedical Department III, Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.

Anke Tönjes *Medical Department III, Endocrinology, Nephrology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.

Denny Popp *Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked hypophosphatemia (XLH) is a rare, genetically determined disorder of phosphate metabolism, most commonly caused by mutations in the

Indexed as

Familial Hypophosphatemic RicketsIntronsMutationPHEX Phosphate Regulating Neutral EndopeptidaseRNA SplicingAntibodies, Monoclonal, HumanizedFemaleFibroblast Growth Factor-23HumansSequence Analysis, RNAWhole Genome SequencingAntibodies, Monoclonal, HumanizedburosumabFGF23 protein, humanFibroblast Growth Factor-23PHEX Phosphate Regulating Neutral EndopeptidasePHEX protein, humanAberrant splicingburosumabcase reportdeep intronic variantPHEX geneRNA sequencingwhole genome sequencingX-linked hypophosphatemia

Identifiers

PMID42494860

DOI10.3389/fendo.2026.1847219

PMCPMC13392855

What OpenQuestion holds

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LicenceCC BY

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.