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Article

Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance.

International journal of molecular sciences - 25 Jul 2023

Bjeloš Mirjana, Ćurić Ana, Bušić Mladen, Rak Benedict, Kuzmanović Elabjer Biljana, Marković Leon

Abstract excerpt

Pathogenic variants in IMPDH1 are associated with autosomal dominant retinitis pigmentosa 10 (RP10), and Leber congenital amaurosis 11. This case report of a 13-year-old girl with Down's syndrome and keratoglobus is aimed at linking the novel variant IMPDH1 c.134A>G, p.(Tyr45Cys), a variant of uncertain significance, to a clinical phenotype and to provide grounds for the objective assignment of its benign...

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Identifiers

PMID: 37569264
DOI: 10.3390/ijms241511889
PMCID: PMC10419040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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