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Cat Eye Syndrome with a Unique Liver and Dermatological Presentation
Cat eye syndrome (CES), also known as Schmid-Fraccaro syndrome, is a complex genetic syndrome with a highly variable phenotype that includes ocular coloboma, anal atresia, preauricular skin tags and pits, heart defects, kidney malformations, dysmorphic facial features, and mild to moderate intellect...
Autores principales: | Mansur, Maureen, Jacob, Thomas J, Wong, Helen, Tarascin, Ilya |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160316/ https://www.ncbi.nlm.nih.gov/pubmed/37153326 http://dx.doi.org/10.7759/cureus.37142 |
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