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Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
PURPOSE: This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. CASE PRESENTATION: The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncorrected distance visual acuity of her left eye was 0.7 Lo...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601103/ https://www.ncbi.nlm.nih.gov/pubmed/37880750 http://dx.doi.org/10.1186/s13039-023-00660-2 |