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CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma

Detalles Bibliográficos
Autores principales:	Yu-Chuan Kang, Eugene, Wang, Nan-Kai, Wu, Wei-Chi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Image
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859801/ https://www.ncbi.nlm.nih.gov/pubmed/35243138 http://dx.doi.org/10.1016/j.ajoc.2022.101352

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