ReviewMolecular syndromology2016
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
Review in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report.International journal of molecular sciences · 2026Article
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.Journal of human immunity · 2026Article
- Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature.Clinical case reports · 2026Article
- Article
- Heat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant.Open life sciences · 2025Article
- A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.Frontiers in pediatrics · 2024Article
- Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in theFrontiers in pediatrics · 2024Article
- A rare presentation of multiple eruptive vellus hair cysts and dystrophic nails in a pediatric patient with Stüve-Wiedemann syndrome.JAAD case reports · 2023Article
- Neuroparalytic keratopathy in Stüve-Wiedemann syndrome treated with tarsoconjunctival flap.Indian journal of ophthalmology · 2023Article
- Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant.International journal of pediatrics & adolescent medicine · 2022Article
- Leukemia Inhibitory Factor: An Important Cytokine in Pathologies and Cancer.Biomolecules · 2022Review
- Oral ulceration in Stüve-Wiedemann syndrome: a new presentation.BMJ case reports · 2021Article
- Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.Journal of neurology & neuromedicine · 2016Article
- Implications of neuropathy and management of the corneal surface in a patient with Stuve-Wiedemann syndrome.Romanian journal of ophthalmologyArticle
- The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review.Journal of medical ultrasoundArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.