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Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations

Leber’s congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. With advances in molecular diagnostic technology, the knowl...

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Detalles Bibliográficos
Autores principales:	Huang, Chu-Hsuan, Yang, Chung-May, Yang, Chang-Hao, Hou, Yu-Chih, Chen, Ta-Ching
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392113/ https://www.ncbi.nlm.nih.gov/pubmed/34440435 http://dx.doi.org/10.3390/genes12081261

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