Evidence map›Paper›PMID 40959803›Full record

ArticleCase reports in pediatrics2025

Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in

Silvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, Robert Spaull, Ala Fadilah, Kathreena Kurian, Kayal Vijayakumar, Sarah Smithson, Anirban Majumdar

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

Article in Case reports in pediatrics, 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. Delineating theInternational journal of molecular sciences · 2026
    Review
  2. 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.

Silvia Beatriz Sanchez MarcoDepartment of Paediatric Neurology, University Hospital of Wales, Cardiff and Vale University Health Board, Cardiff, UK.ORCID https://orcid.org/0000-0003-3261-4480
Emily PardingtonRoyal United Hospital, Royal United Hospitals Bath NHS Trust Foundation, Bath, UK.
Marie MonaghanDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Robert SpaullDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Ala FadilahDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Kathreena KurianDepartment of Neuropathology, Southmead Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Kayal VijayakumarDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Sarah SmithsonDepartment of Clinical Genetics, St Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Anirban MajumdarDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a three-year-old girl with an unusual c-terminal binding protein 1 (

Indexed as

cerebellar ataxiaCTBP1developmental delayenamel defectshypotoniawhole genome sequencing

Identifiers

PMID40959803
PMCPMC12436017

What OpenQuestion holds

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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.