Evidence map›Paper›PMID 34177437›Full record

ArticleMolecular syndromology2021

Novel Hemizygous Missense Variant of Spermine Synthase (

Stella Mouskou, Adamantios Katerelos, Artemis Doulgeraki, Sofia Leka-Emiri, Emmanouil Manolakos, Ioannis Papoulidis, Athina Ververi, Georgios Vartzelis, Anastasia Korona, Sotiria Mastroyanni and 1 more

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

Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.1field-weighted citation impact, top 58% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Polyamine Metabolism in Brain Health and Disease.Neuropharmacology and therapy · 2026
    Article
  4. 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

11 authors at 3 institutions in 1 country.

Stella MouskouDepartment of Neurology, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
Adamantios KaterelosDepartment of Neurology, 'Karamandaneio' Children's Hospital, Patra, Greece.
Artemis DoulgerakiDepartment of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece.
Sofia Leka-EmiriDepartment of Endocrinology-Growth and Development, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
Emmanouil ManolakosAccess To Genome, Clinical Laboratory Genetics, Athens, Greece.
Ioannis PapoulidisAccess To Genome, Clinical Laboratory Genetics, Athens, Greece.
Athina VerveriAccess To Genome, Clinical Laboratory Genetics, Athens, Greece.
Georgios VartzelisDepartment of Neurology, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
Anastasia KoronaDepartment of Neurology, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
Sotiria MastroyanniDepartment of Neurology, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
Konstantinos VoudrisDepartment of Neurology, 'P & A Kyriakou' Children's Hospital, Athens, Greece.
Panagiotis & Aglaia Kyriakou Children's Hospital · GRGeneral Hospital Pediatric Karamandanio · GRInstitute of Child Health · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus - reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscoliosis). We report a case of SRS with a hemizygous missense variant in the

Indexed as

de novo mutationEpilepsyOsteopeniaSnyder-Robinson syndromeSpermine synthase

Identifiers

PMID34177437
PMCPMC8215975
OpenAlexW3155388247

What OpenQuestion holds

Textmetadata
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.