Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and severe mental retardation. Until now, less t...

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Detalles Bibliográficos
Autores principales: Goehring, Marie, Choorapoikayil, Suma, Zacharowski, Kai, Messroghli, Leila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8152345/
https://www.ncbi.nlm.nih.gov/pubmed/34039274
http://dx.doi.org/10.1186/s12871-021-01380-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8152345/
https://www.ncbi.nlm.nih.gov/pubmed/34039274
http://dx.doi.org/10.1186/s12871-021-01380-z

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