Evidence map›Paper›PMID 40869907›Full record

ReviewGenes2025

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Giovanni Luppino, Malgorzata Wasniewska, Giorgia Pepe, Letteria Anna Morabito, Silvana Briuglia, Antonino Moschella, Francesca Franchina, Cecilia Lugarà, Tommaso Aversa, Domenico Corica

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

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

10 authors.

Giovanni LuppinoDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.ORCID 0009-0008-7697-2347
Malgorzata WasniewskaDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.ORCID 0000-0002-8299-2677
Giorgia PepeDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.
Letteria Anna MorabitoPediatric Unit, AOU Policlinico G. Martino, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-8274-9474
Silvana BriugliaDepartment of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98100 Messina, Italy.ORCID 0000-0002-5213-441X
Antonino MoschellaUOSD Genetica Medica, Grande Ospedale Metropolitano "Bianchi-Melacrino-Morelli", 89100 Reggio Calabria, Italy.ORCID 0000-0002-0437-9471
Francesca FranchinaDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.
Cecilia LugaràDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.ORCID 0009-0006-6559-4833
Tommaso AversaDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.ORCID 0000-0002-1754-6822
Domenico CoricaDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria1, 98125 Messina, Italy.ORCID 0000-0002-3628-1612

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family. CASE DESCRIPTION: A female patient with severe short stature and intellectual disability had been followed since she was 9 years old. Several causes of short stature were ruled out. At the age of 12 years, her height was 114 cm (-5.22 SDS), weight 19 kg (-5.88 SDS), BMI 14.6 kg/m

conclusionThis is the first case of a patient with overlap syndrome due to

Indexed as

DwarfismGrowth DisordersHuman Growth HormoneIntellectual DisabilityMethyltransferasesBody HeightChildFemaleHumansMutationHuman Growth HormoneMethyltransferasesSETD5 protein, humanCornelia de Lange syndromegrowth hormone therapyKBG syndromeMDR23overlap syndromeSETD5 gene mutationshort stature

Identifiers

PMID40869907
PMCPMC12385900

What Socratic holds

Textmetadata
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 Socratic graph.