Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene—Long-Term Follow-Up of a Sibling

Infantile cerebellar-retinal degeneration (ICRD) is an extremely rare, infantile-onset neuro-degenerative disease, characterized by autosomal recessive inherited, global developmental delay (GDD), progressive cerebellar and cortical atrophy, and retinal degeneration. In 2012, a biallelic pathogenic...

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Detalles Bibliográficos
Autores principales: Ha, Dong Jun, Park, Jisun, Seo, Go Hun, Lee, Kyoungyeul, Kwon, Young Se, Lee, Ji Eun, Kim, Su Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965713/
https://www.ncbi.nlm.nih.gov/pubmed/35368710
http://dx.doi.org/10.3389/fgene.2022.729980

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965713/
https://www.ncbi.nlm.nih.gov/pubmed/35368710
http://dx.doi.org/10.3389/fgene.2022.729980

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