Evidence map›Paper›PMID 37559368›Full record

ArticleJournal of clinical research in pediatric endocrinology2025

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes

Juan D González-Rodríguez, Esther Q Inglés-Torres, José E Cabrera-Sevilla, Salvador Ibáñez-Micó, Francisca Bermejo-Costa, Ascensión Vera-Carbonell, Juan A Bafalliu-Vidal, Pedro Cortés-Mora, Ana Lorente-Nicolás, José María Donate-Legaz

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical research in pediatric endocrinology, 2025. 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. 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

10 authors.

Juan D González-RodríguezHospital General Universitario Santa Lucía, Department of Pediatric Nephrology, Cartagena, Murcia, SpainORCID 0000-0002-8863-2007
Esther Q Inglés-TorresHospital General Universitario Santa Lucía, Department of Pediatric Nephrology, Cartagena, Murcia, SpainORCID 0000-0002-7438-2537
José E Cabrera-SevillaHospital General Universitario Santa Lucía, Department of Pediatric Nephrology, Cartagena, Murcia, SpainORCID 0000-0002-6269-9692
Salvador Ibáñez-MicóHospital Clínico Universitario Virgen de la Arrixaca, Department of Pediatric Neurology, Murcia, SpainORCID 0000-0003-4582-6511
Francisca Bermejo-CostaHospital General Universitario Santa Lucía, Department of Pediatric Gastroenterology, Cartagena, SpainORCID 0009-0003-4847-8054
Ascensión Vera-CarbonellHospital Clínico Universitario Virgen de la Arrixaca, Biochemistry and Clinical Genetics Center, Murcia, SpainORCID 0009-0007-7496-6931
Juan A Bafalliu-VidalHospital Clínico Universitario Virgen de la Arrixaca, Biochemistry and Clinical Genetics Center, Murcia, SpainORCID 0009-0004-6367-7016
Pedro Cortés-MoraHospital General Universitario Santa Lucía, Department of Pediatric Gastroenterology, Cartagena, SpainORCID 0000-0002-4829-7507
Ana Lorente-NicolásHospital General Universitario Santa Lucía, Department of Pediatric Cardiology, Cartagena, SpainORCID 0009-0008-2971-7271
José María Donate-LegazHospital General Universitario Santa Lucía, Department of Pediatric Endocrinology, Cartagena, SpainORCID 0009-0002-5496-9127

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

One-month old, breastfeeding infant, born at term, with normal anthropometric measurements at birth was referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presented with dysmorphic features and heart disease. A metabolic study was conducted on blood and urine yielding results within normal parameters, except for the renal concentration test and acidification test. At six months of age, the patient presented with overgrowth, which along with other clinical signs aroused the suspicion of Sotos syndrome. Molecular genetic testing identified a heterozygous deletion in 5q35 between bands q35.2 and q35.3, affecting the genes

Indexed as

NephrocalcinosisSodium-Phosphate Cotransporter Proteins, Type IIaSotos SyndromeHistone-Lysine N-MethyltransferaseHumansInfantIntracellular Signaling Peptides and ProteinsNuclear ProteinsHistone-Lysine N-MethyltransferaseIntracellular Signaling Peptides and ProteinsNSD1 protein, humanNuclear ProteinsSLC34A1 protein, humanSodium-Phosphate Cotransporter Proteins, Type IIacase reportFGFR4nephrocalcinosisNSD1SCL34A1Sotos syndrome

Identifiers

PMID37559368
PMCPMC12118326

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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.