Evidence map›Paper›PMID 38226334›Full record

ArticleBone reports2024

X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia.

Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Bone reports, 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
0.2field-weighted citation impact, top 42% of its field
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 citations in OpenAlex.

  1. Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025
    Article
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 at 3 institutions in 1 country.

Maria Fourikou3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
Aristea Karipiadou3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
Athina VerveriCentre for Genetics of Rare Diseases, Papageorgiou General Hospital, Agiou Pavlou 76, Pavlos Melas 564 29, Thessaloniki, Greece.
Parthena Savvidou3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
Nikolaos LaliotisDepartment of Orthopaedics, Inter Balkan Medical Center, Asklipiou 10, 57001 Pylaia, Thessaloniki, Greece.
Vassilios Tsitouras2nd Neurosurgery Department, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
Stella Stabouli1st Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
Emmanuel Roilides3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
Konstantinos Kollios3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
Aristotle University of Thessaloniki · GRInterbalkan Medical Center · GRPapageorgiou General Hospital · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and lower limb deformities. We describe a case of XLH-rickets in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia, with a de novo non-canonical splice variant (c.1080-3C > G) in intron 9 of the PHEX gene, that has not been previously described.

Indexed as

Chiari syndromeCraniosynostosisPhosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX)RicketsSplice-site mutationX-linked hypophosphatemia

Identifiers

PMID38226334
PMCPMC10788211
OpenAlexW4389688174

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.