Evidence map›Paper›PMID 33935973›Full record

ArticleFrontiers in endocrinology2021

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome.

Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A L Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner

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

Article in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. A Novel Renal Manifestation inJournal of medical cases · 2026
    Article
  2. Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024
    Review
  3. Article
  4. Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case ofJournal of clinical research in pediatric endocrinology · 2023
    Article
  5. Article
  6. 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 at 5 institutions in 2 countries.

Vera SplittstoesserPediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Heike VollbachPediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Michaela PlamperPediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Werner GarbeDepartment of Neonatology, St. Marien-Hospital, Bonn, Germany.
Elisa De FrancoInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
Jayne A L HoughtonGenomics Laboratory, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
Gesche DuekerDivision of Pediatric Gastroenterology and Hepatology, Children's Hospital, University of Bonn, Bonn, Germany.
Rainer GanschowDivision of Pediatric Gastroenterology and Hepatology, Children's Hospital, University of Bonn, Bonn, Germany.
Bettina GohlkePediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
Felix SchreinerPediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.
University Hospital Bonn · DEUniversity of Bonn · DEExeter Hospital · GBSt. Marien-Hospital Bonn · DEUniversity of Exeter · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

Background: Neonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene Case presentation: We describe a boy with a homozygous deletion (exons 5-9) in the Conclusions: Our report expands the phenotypic spectrum of patients with

Indexed as

MutationPhenotypeCongenital HypothyroidismDiabetes MellitusDNA-Binding ProteinsHumansInfantMalePrognosisRepressor ProteinsTrans-ActivatorsDNA-Binding ProteinsGLIS3 protein, humanRepressor ProteinsTrans-Activatorsanemiacholestasisexocrine pancreatic insufficiencyGLIS3megalocorneaneonatal diabetes

Identifiers

PMID33935973
PMCPMC8087289
OpenAlexW3156924777

What OpenQuestion 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 OpenQuestion graph.