A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis

BACKGROUND: An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify the most h...

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Detalles Bibliográficos
Autores principales: Bedeschi, Maria Francesca, Crippa, Beatrice Letizia, Colombo, Lorenzo, Buscemi, Martina, Rossi, Cesare, Villa, Roberta, Gangi, Silvana, Picciolini, Odoardo, Cinnante, Claudia, Fergnani, Viola Giulia Carlina, Ajmone, Paola Francesca, Scola, Elisa, Triulzi, Fabio, Mosca, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181484/
https://www.ncbi.nlm.nih.gov/pubmed/32326958
http://dx.doi.org/10.1186/s13052-020-0806-8

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