A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

BACKGROUND: Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature and limited clinical information are available to assure a proper health surveill...

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Detalles Bibliográficos
Autores principales: Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Gonfiantini, Michaela V., Cortellessa, Fabiana, Caciolo, Cristina, Zollino, Marcella, Accadia, Maria, Seri, Marco, Chinali , Marcello, Mammì, Corrado, Tartaglia, Marco, Bartuli, Andrea, Alfieri, Paolo, Priolo, Manuela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9206304/
https://www.ncbi.nlm.nih.gov/pubmed/35717370
http://dx.doi.org/10.1186/s13023-022-02384-9

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