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

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 un...

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Detalles Bibliográficos
Autores principales: Bjeloš, Mirjana, Ćurić, Ana, Bušić, Mladen, Rak, Benedict, Kuzmanović Elabjer, Biljana, Marković, Leon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419040/
https://www.ncbi.nlm.nih.gov/pubmed/37569264
http://dx.doi.org/10.3390/ijms241511889

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419040/
https://www.ncbi.nlm.nih.gov/pubmed/37569264
http://dx.doi.org/10.3390/ijms241511889

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