ArticleMolecular syndromology2023
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.
Article in Molecular syndromology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.Molecular syndromology · 2025Article
- Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.Molecular syndromology · 2025Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
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Abstract
Introduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in Case Presentation: Four years after the diagnosis and management of THES, due to new clinical findings, another reason for underlying features of the patient was considered. WES was performed and a homozygous c.507delT (p.Arg171GlyfsTer7) mutation in the Conclusion: This case provides an example of co-existence of multiple genetic defects in a single patient born to consanguineous parents.
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