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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

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