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CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
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 |