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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...

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Detalles Bibliográficos
Autores principales:	Wang, Yanan, Zhang, Pai, Chai, Yuqiong, Zang, Weiwei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
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

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