Kurian GS, Frio TR, Ruchonnet-Metrailler I, Fluss J, et al. Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girl. BMC Pediatr 2026 Jun 3. doi: 10.1186/s12887-026-07014.
PMID: 42237298