Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Mansur, Maureen, Jacob, Thomas J, Wong, Helen, Tarascin, Ilya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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