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Anaesthesia and orphan disease: Management of a case of NicolaidesBaraitser syndrome undergoing cleft palate surgery

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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 than 100 cases have been reported.

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Nội dung Text: Anaesthesia and orphan disease: Management of a case of NicolaidesBaraitser syndrome undergoing cleft palate surgery

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